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Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
OMIM
Jejunal perfusion studies showed the jejunum to be in a net secretory state with intact hexose transport, but with an anomalous relation between jejunal sodium and hydrogen transport. ... Congenital Secretory Sodium Diarrhea with Associated Features Muller et al. (2000) stated that only 6 cases of congenital sodium diarrhea had been reported. ... Two of the 5 patients were born with choanal atresia. Muller et al. (2000) cited cases of congenital secretory diarrhea combined with choanal atresia observed in Sweden, Germany, and the Netherlands. ... The risk of death from complications (e.g., dehydration, line-related infections, liver failure) was high, with death in 14 of the 34 patients. Mapping Muller et al. (2000) performed pedigree analysis in 2 Austrian families with congenital sodium diarrhea and demonstrated parental consanguinity and a single common ancestral couple 5 generations earlier. ... Heinz-Erian et al. (2009) performed a genomewide linkage scan in 2 affected and 11 unaffected members of a consanguineous Austrian kindred with syndromic congenital sodium diarrhea, previously reported by Muller et al. (2000), and identified a single region of extended homozygosity on chromosome 19q13; recombination events defined a 6.754-Mb critical interval between rs1363364 and rs2317314.
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Angioedema, Hereditary, Type Iii
OMIM
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Search Hereditary Angioedema case abstracts
Clinical Features Binkley and Davis (2000) reported a 3-generation Italian family with a unique type of hereditary angioedema that was estrogen-dependent. ... They observed the transmission of disease to children from an unaffected female in 2 kindreds. Bork et al. (2000) proposed the term 'hereditary angioedema type 3' (HAE III) for this disorder. ... They suggested that the failure response to therapy observed by Bork et al. (2000) might be related to an underdosed therapeutic regimen. ... In an Italian family with estrogen-dependent angioedema, Binkley and Davis (2000) excluded mutations at the C1 inhibitor locus and in the promoter region of the F12 gene. ... Kranke et al. (2000) suggested that the type discussed by Bork et al. (2000) should be named HAE IV.F12, SERPING1, KNG1, PLG, GRK6, KLKB1, SPINK6, SERPINA4, ANGPT1, ACE, SMPX, POMC, SERPINF2, INA, RBPJ, SERPINF1, CSHL1, CRP, BDKRB2, C2, C1S, CPQ, MBL3P, MASP2, ABCB6, SSB, VCAM1, TNF, SMUG1, TGM2, IL23A, C4orf3, LINC01194, TGFB3, TFPI, A2M, RO60, TRIM21, ABO, ADM, AHSG, ALB, C4B, F3, NR3C1, HSP90AA1, IL17A, MBL2, NHS, SERPINB2, AAVS1, PLAT, REN, TLX1NB
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Protein Kinase, Amp-Activated, Noncatalytic, Gamma-3
OMIM
All 3 subunits are required to yield significant kinase activity (Cheung et al., 2000). Cloning and Expression By screening a human skeletal muscle cDNA library with the C-terminal 201 amino acids of rat beta-1, Cheung et al. (2000) isolated the gamma-3 isoform of the AMP-activated protein kinase. ... Using human skeletal muscle cDNA, Milan et al. (2000) determined the cDNA sequence of human PRKAG3 by RT-PCR and 5-prime RACE analysis. ... Northern blot analysis of human PRKAG3 demonstrated distinct muscle-specific expression, whereas PRKAG1 and PRKAG2 were widely expressed. Milan et al. (2000) noted that the human full-length PRKAG3 cDNA sequence reported by Cheung et al. (2000) encodes an additional 25 amino acids in the N-terminal region and a different sequence in the C-terminal end relative to the sequence described by them. Milan et al. (2000) suggested that alternative splicing occurs in the 5-prime region of the gene, and that experimental data are needed to determine which of the ATG codon(s) are used for initiation of translation. With regard to the difference in the C-terminal end, Milan et al. (2000) believed their sequence to be the correct one as it is consistent with the human genomic sequence as well as the pig coding sequence.
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Spinocerebellar Ataxia Type 8
GeneReviews
Onset has been reported from age one to 73 years [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000, Silveira et al 2000, Felling & Barron 2005, Maschke et al 2005]. ... Common initial symptoms reported are dysarthria and gait instability; life span is typically not shortened [Day et al 2000, Juvonen et al 2000]. Clinical symptoms observed in most individuals with the SCA8 form of ataxia are dysarthria and clumsiness of gait and limb movements [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000, Cellini et al 2001, Brusco et al 2002, Tazón et al 2002, Topisirovic et al 2002, Mosemiller et al 2003, Schöls et al 2003, Zeman et al 2004, Lilja et al 2005]. ... Tendon reflex hyperactivity and extensor plantar responses are present in some severely affected individuals [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000]. ... MRI and CT have consistently shown cerebellar atrophy, specifically in the cerebellar hemisphere and vermis in individuals with SCA8 [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000, Cellini et al 2001, Brusco et al 2002, Tazón et al 2002, Topisirovic et al 2002, Schöls et al 2003, Zeman et al 2004, Lilja et al 2005]. ... No correlation between the size of the expansion and age of onset or disease severity was observed [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000].
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Cataract 12, Multiple Types
OMIM
Conley et al. (2000) reported a 5-generation family segregating juvenile-onset progressive cataract. ... Visual acuity ranged from moderate to severe myopia in 8 of 11 affected individuals in whom measurements were reported; none had 20/20 visual acuity. Conley et al. (2000) stated that the sutural opacities and cortical changes described in the presurgical 20-year-old female by Kramer et al. (2000) were very similar to the cataracts observed in several family members in their study. ... Conley et al. (2000) performed linkage analysis in 29 members of the 5-generation family with autosomal dominant juvenile-onset cataracts and obtained a maximum 2-point lod score of 3.67 (theta = 0.07) at marker D3S1744 on chromosome 3q21.2-q22.3. ... Molecular Genetics In affected members of a 5-generation family with autosomal dominant juvenile-onset cataract, Conley et al. (2000) identified a missense mutation in the BFSP2 gene (R287W; 603212.0001). ... In affected members of a 4-generation family with autosomal dominant congenital cataract previously described by Kramer et al. (2000), Jakobs et al. (2000) identified an in-frame deletion in the BFSP2 gene (E233del; 603212.0002).
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Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
OMIM
Clinical Features Wheeler et al. (2000) described an 8-year-old girl who presented with hundreds of milia; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms, along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood, and the disease was by history present in 6 generations. Wheeler et al. (2000) characterized 18 family members by physical exam and biopsy. The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Wheeler et al. (2000) suggested that this unique genodermatosis be referred to as 'dominantly inherited generalized basaloid follicular hamartoma syndrome,' or GBFHS. Inheritance The transmission pattern of generalized basaloid follicular hamartoma syndrome in the family reported by Wheeler et al. (2000) was consistent with autosomal dominant inheritance.
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Cataract 15, Multiple Types
OMIM
All affected individuals had discrete, congenital, isolated, progressive, bilateral, punctate lens opacities limited to mid- and peripheral lamellae; some individuals had asymmetric anterior and posterior polar opacification, and one individual had predominantly cortical cataract, thus prompting Berry et al. (2000) to describe the cataract as polymorphic. Bateman et al. (1986) and Bateman et al. (2000) studied a 4-generation American family of European descent (family ADC2) segregating autosomal dominant congenital cataracts described as embryonal nuclear or pulverulent cortical. ... Geyer et al. (2006) studied 12 members of family ADC2; 10 exhibited variable expressivity of cataract with radiating, vacuolar, or dense opacities in the embryonal nucleus, and 2 had milder cataracts with fine punctate cortical opacities. Mapping Berry et al. (2000) performed linkage analysis on a 4-generation family segregating autosomal dominant cataract. ... In the family segregating autosomal dominant cataract reported by Bateman et al. (1986), in which previously identified cataract loci had been excluded, Bateman et al. (2000) found linkage to chromosome 12, with a maximum lod score of 4.62 with marker D12S90. Molecular Genetics In affected members of a 4-generation pedigree segregating autosomal dominant cataract mapping to chromosome 12q, Berry et al. (2000) identified a heterozygous missense mutation in the MIP gene (T138R; 154050.0001).
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Cataract 31, Multiple Types
OMIM
The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' Clinical Features Yamada et al. (2000) described a Japanese family in which 10 members in 4 generations were affected with autosomal dominant posterior polar cataract. ... Mapping By linkage analysis of the Japanese family with cataract described by Yamada et al. (2000), Yamada et al. (2000) assigned the locus, which they designated CPP3, to chromosome 20p12-q12. ... Shiels et al. (2007) also identified a heterozygous mutation (E161K; 610897.0002) in the CHMP4B gene in affected individuals of the Japanese family previously reported by Yamada et al. (2000) and Yamada et al. (2000). Exclusion Studies In a Japanese family with cataract mapping to chromosome 20p12-q12, Yamada et al. (2000) performed sequence analysis on the entire coding region of the BFSP1 gene (603307), but found no base substitutions or deletions.
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Terminal Osseous Dysplasia
OMIM
., 2010). Clinical Features Zhang et al. (2000) identified a novel limb-malformation syndrome in a 4-generation family. ... The phenotype was reminiscent of those described by Bloem et al. (1974) and Horii et al. (1998) in sporadic cases. Bacino et al. (2000) gave a full description of the family reported by Zhang et al. (2000). ... Brunetti-Pierri et al. (2010) restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by Zhang et al. (2000), reviewing clinical and radiologic characteristics. ... Brunetti-Pierri et al. (2010) restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by Zhang et al. (2000), obtaining a maximum multipoint lod score of 2.9 from marker rs1860929 to qter; an identical haplotype was found only in affected individuals. ... In affected members of 3 families segregating terminal osseous dysplasia, 2 of which were previously described by Breuning et al. (2000) and Baroncini et al. (2007), and in 3 sporadic case individuals, who were previously described by Horii et al. (1998), Drut et al. (2005), and Breuning et al. (2000), Sun et al. (2010) identified a causative mutation in the FLNA gene: a 5217G-A transition activated a cryptic splice site, removing the last 48 nucleotides from exon 31 and resulting in a loss of 16 amino acids (300017.0029).
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Nail Disorder, Nonsyndromic Congenital, 7
OMIM
In most cases, all fingernails and toenails are involved, with some accentuation of the changes in the thumb nails and great toe nails (summary by Hamm et al., 2000 and Krebsova et al., 2000). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). Clinical Features Hamm et al. (2000) characterized an unusual congenital nail dysplasia in a large kindred from southern Germany. ... Histologic abnormalities included a prominent granular layer of the nail matrix and epithelial strands and buds extending from the nail bed. Hamm et al. (2000) excluded other nail dystrophies in this kindred, including twenty-nail dystrophy (NDNC1; 161050), by differences in clinical and histologic features. Mapping Krebsova et al. (2000) performed linkage analysis in the family reported by Hamm et al. (2000).
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Cone-Rod Dystrophy 8
OMIM
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Khaliq et al. (2000) described a 2-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy. ... Ismail et al. (2006) reexamined affected members of the Pakistani family with CORD8 previously described by Khaliq et al. (2000). They had suffered loss of color vision, severe photophobia, and epiphora since childhood. ... Molecular Genetics Exclusion Studies By mutation screening in a 2-generation Pakistani family with CORD8, Khaliq et al. (2000) excluded 3 candidate genes, CRABP2 (180231), GNAT2 (139340), and KCNJ10 (602208), as the cause of CORD8. Using additional microsatellite markers in the Pakistani family previously reported by Khaliq et al. (2000), Ismail et al. (2006) excluded mutations in the SEMA4A (607292) and PRPF3 (607301) genes. In 2 affected members of the 2-generation Pakistani family with CORD mapping to chromosome 1, originally studied by Khaliq et al. (2000), Ansar et al. (2015) analyzed all exons of the ATF6 gene (605537) but did not detect any mutations.CRX, PROM1, ABCA4, GUCY2D, RPGR, GUCA1A, C8orf37, CDHR1, RPGRIP1, RIMS1, PRPH2, RAB28, ADAM9, POC1B, NMNAT1, AIPL1, PITPNM3, CNGA3, UNC119, SEMA4A, CACNA1F, CFAP410, CACNA2D4, ATF6, OPN1MW, TTLL5, DRAM2, RAX2, OPN1LW, H6PD, HSD11B1, AQP4, ALMS1, ATXN7, CNNM4, BDNF, GFAP, SOD1, IL6, NTF3, TST, CD6, CERKL, TNF, CSF3, CEP250, MIR137, GUCA2A, CORD1, TLR4, TNFRSF1B, VCP, IL1B, PTPRC, LAMC2, PRPH, POMC, SAR1B, NGF, NOS3, CSF2, TARDBP, CST3, GDNF, FGF2, ERG, EYS, GAP43, SMN2, CRB1, CTNNB1, C9orf72, RDH12, SMN1, CNTN6, GDE1, LEF1, PSIP1, IFT81, GIT1, HDAC3, SLC25A37, LPAR3, SNURF, CORD8, SLC35A1, SIGLEC7, MSC, RNU1-1, STMN2, ABCG2, LYVE1, NISCH, ADAMTS3, GAL3ST1, ADAMTS4, SNX27, TREM1, AHI1, NCR3, MRGPRX1, COPD, AMIGO3, HES5, PCARE, MIR15A, MIR17, MIR185, MIR20A, MIR21, MIR210, MIR219A1, MIR223, MIR30A, MIR31, VN1R17P, GPR166P, MIR372, MIR375, MIR409, MIR3074, CST12P, MFSD8, GPRC6A, ADAMTS18, CEP290, CASZ1, SPATA7, CCL28, KCNQ5, SAR1A, RGMA, NLN, LGR6, MICAL1, MAP9, LINGO1, KCNV2, MRGPRX3, MRGPRX4, CD200R1, GPR151, RSS, DUSP19, NRG4, VPS13B, OXER1, LCA5, IQGAP1, STAT3, KLF7, KHSRP, EGF, EIF4EBP1, ELN, EPHB2, EPO, F2, FES, FGF1, FN1, FXN, MSTN, GNAT2, GNB1, GRIA1, GRIA2, GRM2, GUCA1B, HCLS1, HLA-DPB1, HLA-DRB1, HMGB1, HRH1, IFNB1, EDA, DPYSL2, CYP19A1, TSPO, ACTN3, AGTR1, AHSG, AIF1, ALOX12, AMD1, AMD1P2, ARL3, ASNS, B2M, CACD, CYBB, CCK, CD38, CD69, CHRM3, CLTA, CRP, CCN2, CTSL, CTSS, CUX1, IGF1, IGSF1, IL2RB, TAC1, SMS, SNRPB, SNRPN, SOAT1, SOX11, SP4, SPP1, STAT1, ACTB, ELOVL4, TCF3, RHO, TFPI, TGFB1, TIMP3, TLR2, TULP1, TULP2, UCHL1, VEGFA, TRPV1, FZD4, S100B, RANGAP1, IL7, MTHFR, ITGAD, KNG1, STMN1, LGALS1, LRP6, MBP, MDK, MIF, CD200, MT1B, MTTP, PTPRF, NOS1, CNTN3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLG, MAPK1, PROC, PTEN, LINC02605
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Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
OMIM
For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970). Clinical Features Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. ... Mapping By linkage analysis in a North American family with early-onset arrhythmogenic right ventricular dysplasia, Li et al. (2000) first excluded the 5 previously known ARVD loci, and a novel locus was identified on 10p14-p12. ... Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between markers D10S547 and D10S1653. Molecular Genetics Li et al. (2000) investigated the involvement of the PTPLA gene (610467) in the family with ARVD mapped to 10p by Li et al. (2000).
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2-Methylbutyryl-Coa Dehydrogenase Deficiency
OMIM
Clinical Features Andresen et al. (2000) reported a 3-year-old boy, born of consanguineous Pakistani parents, who showed increasing hypotonia and delayed motor development in the second year of life. ... Although both parents and 2 sibs were asymptomatic, the mother was shown also to excrete 2-methylbutyryl glycine. Gibson et al. (2000) reported an American boy of northern European and Eritrean descent with SBCADD. ... Madsen et al. (2006) provided follow-up on the patients reported by Gibson et al. (2000). At age 6 years, the boy showed severe developmental delay and epilepsy. ... Molecular Genetics In a patient with 2-methylbutyryl glycinuria, Andresen et al. (2000) identified a homozygous mutation in the ACADSB gene (600301.0001). Gibson et al. (2000) described heterozygosity for a mutation in ACADSB cDNA (600301.0002) in a patient with 2-methylbutyryl glycinuria.
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Hyaluronan Metabolism, Defect In
OMIM
Clinical Features Ramsden et al. (2000) reported a boy with generalized folding and thickening of the skin, which had been recognized by sonogram prenatally and had been striking since birth. ... Muscle biopsy revealed no significant abnormality. Ramsden et al. (2000) found that the patient's skin contained gross accumulation of hyaluronan, and the serum concentration of hyaluronan was markedly elevated (up to 3100 mug/L) during infancy. ... Application of topical corticosteroids appeared to hasten wound healing and diminish local recurrence of hyaluronan accumulation. Ramsden et al. (2000) stated that this disorder is clinically distinct from mucopolysaccharidosis type IX (601492), which also features hyaluronidase deficiency. ... Furthermore, this patient had short stature, periarticular soft tissue masses, and acetabular erosions, all features not present in the patient reported by Ramsden et al. (2000). Animal Model Prompted by the similarity between the clinical findings in their patient and the dermatologic findings in the Chinese shar-pei dog, Ramsden et al. (2000) demonstrated that plasma hyaluronan concentrations were higher in shar-pei dogs than in control dogs.
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Cardiomyopathy, Dilated, 1j
OMIM
Clinical Features Schonberger et al. (2000) described 2 kindreds with autosomal dominant transmission and age-related penetrance of both sensorineural hearing loss and dilated cardiomyopathy (DCM) in the absence of other disorders. ... Mapping Using DNA samples from their larger kindred (MCE) of 29 individuals to perform a genomewide linkage study, Schonberger et al. (2000) obtained a maximum lod of 4.88 at D6S2411 on chromosome 6q23-q24. ... In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss mapping to 6q23-q24, previously described by Schonberger et al. (2000), Schonberger et al. (2005) performed fine mapping that narrowed the critical interval to a 2.0-Mb region containing 8 known genes and several EST clusters. Molecular Genetics In a large kindred (MCE) with dilated cardiomyopathy and hearing loss linked to chromosome 6q23-q24, Schonberger et al. (2000) analyzed the candidate gene epicardin (603306), which encodes a transcription factor expressed in the myocardium and cochlea, but no mutations were identified. In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss originally described by Schonberger et al. (2000), Schonberger et al. (2005) analyzed the 3 candidate genes within a 2.0-Mb critical region of linkage that are expressed in both heart and cochlea, EYA4 (603550), SGK (602958), and TCF21 (603306), and identified a deletion in the EYA4 gene (603550.0003) that was present in all affected family members and absent from 300 control chromosomes.
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Bardet-Biedl Syndrome 6
OMIM
Description BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load. ... Clinical Features Slavotinek et al. (2000) described patients from 4 families with BBS6. ... Molecular Genetics Slavotinek et al. (2000) and Katsanis et al. (2000) identified mutations in the MKKS gene in patients with BBS. Slavotinek et al. (2000) ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa, obesity, and polydactyly. ... Three of the probands were from Newfoundland and were also included in the study of Katsanis et al. (2000). Slavotinek et al. (2000) sought mutations in the MKKS gene because of phenotypic similarities between McKusick-Kaufman syndrome and Bardet-Biedl syndrome.MKS1, BBS10, SDCCAG8, LZTFL1, BBIP1, CEP290, ARL6, IFT27, BBS2, MKKS, BBS4, BBS1, TTC8, ALMS1, IFT172, C8orf37, NPHP1, TMEM67, TBC1D32, BBS7, TRIM32, BBS9, BBS5, BBS12, TRAPPC3, ASTN2, PIGX, CEP19, ZDHHC24, CCDC28B, LEP, GLIS2, RTEL1, PLLP, PYY3, SULT1A4, PEG13, AZIN1, STOML3, RIN2, MAGEL2, CBLL2, MARVELD2, MYO3B, INPP5E, USP35, MUL1, WDPCP, IFT74, CEP131, SCAPER, INVS, NPY2R, NPY, NMB, NDN, MYO9A, MYO7A, RAB8A, KIFC3, KIF2A, INSR, IL18, GPT, GFAP, ERG, CCT, TNFRSF11B, PRKN, PCM1, ADIPOQ, CEP164, STUB1, FEM1B, RAPGEF5, IQCB1, FEZ1, TRPV1, PDE6B, VEGFA, SULT1A3, RHO, RFX1, RCVRN, PECAM1, SLX1A-SULT1A3
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Enhanced S-Cone Syndrome
OMIM
The latter condition is known as Goldmann-Favre syndrome. Haider et al. (2000) suggested that the altered ratio of S- to L/M-cone photoreceptor sensitivity in ESCS may be due to abnormal cone cell fate determination during retinal development. ... Cones are generated relatively early during retinal development, whereas rods are born during a comparatively late phase (Cepko, 2000) as far as the development of the retina is concerned. Gerber et al. (2000) studied members of a highly consanguineous endogamous population of Crypto-Jews living in a mountainous area of Portugal with what may have been enhanced S-cone syndrome. ... Because of the closed nature of the population, Gerber et al. (2000) were not able to perform S-cone testing. ... Gerber et al. (2000) identified an R311Q mutation in the NR2E3 gene (604485.0005) in a group of Crypto-Jews (Marranos) in Portugal with what may have been ESCS: because of the closed nature of the population, Gerber et al. (2000) were not able to perform S-cone testing, but they noted that Haider et al. (2000) had identified the R311Q mutation in 13 of 29 unrelated patients (44.8%) who were thought to have ESCS.
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Dermatitis, Atopic, 6
OMIM
For a clinical description of atopic dermatitis and an overview of linkage studies, see 603165. Mapping Beyer et al. (2000) tested for the association and linkage between atopic dermatitis and 5 chromosomal regions: 5q31-q33, 6p21.3, 12q15-q24.1, 13q12-q31, and 14q11.2/14q32.1-q32.3. Marker analysis was performed in 2 Caucasian populations: (i) 192 unrelated German children with atopic dermatitis and 59 nonatopic children, all from a German birth cohort study; parental DNA was tested in 77 of 192 children with atopic dermatitis; (ii) 40 Swedish families with at least 1 family member with atopic dermatitis selected from the International Study of Asthma and Allergy in Children. Beyer et al. (2000) observed evidence for association with the markers D5S436 and D5S643 (1 cM upstream from D5S436) on chromosome 5q31-q33 in the German population. Beyer et al. (2000) noted that Meyers et al. (1994) and Postma et al. (1995) had found linkage of high total serum IgE and bronchial hyperresponsiveness, respectively, to chromosome 5q31.1-q33.3, with the most significant finding for the marker D5S436, the same marker that Beyer et al. (2000) found to be associated with atopic dermatitis. Beyer et al. (2000) also observed linkage for atopic dermatitis to markers on 13q12-q14 (ATOD5; 605844).
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Allantoicase
OMIM
Cloning and Expression Vigetti et al. (2000) cloned the first vertebrate cDNA of allantoicase (ALLC) from the amphibian Xenopus laevis and found that its sequence showed high homology with the sequences of allantoicase in yeast. Using the sequence of the Xenopus cDNA, Vigetti et al. (2000) isolated a human ALLC cDNA from a fetal spleen cDNA library and an adult kidney EST clone. ... Gene Function In mammals, the uric acid degradation pathway ends with the formation of allantoin and allantoicase activity is absent (Noguchi et al., 1979). Vigetti et al. (2000) suggested that the absence of human ALLC activity results from an incorrect splicing mechanism. ... Mapping Using a somatic cell hybrid panel, Vigetti et al. (2000) mapped the human ALLC gene to chromosome 2.
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Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
OMIM
Clinical Features Martin et al. (2000) reported 3 related males with congenital sensorineural hearing loss, mental retardation, short stature, congenital umbilical hernia, facial dysmorphism, abnormal teeth, widely spaced nipples, and abnormal dermatoglyphics. ... Variable renal and genitourinary abnormalities were found in this family (Martin et al., 2000; Probst et al., 2004). The youngest patient showed congenital bifid scrotum, small undescended testicles and phallus, chordee, and absence of the vas deferens and epididymis. ... Inheritance The transmission pattern in the family with X-linked mental retardation reported by Martin et al. (2000) was consistent with X-linked recessive inheritance. Mapping Martin et al. (2000) determined that the 3 males with the deafness-mental retardation syndrome described by them shared a haplotype between DXS1003 and DXS1220, a 68-Mb interval spanning Xq1-q21. In the carrier mothers of the 3 affected males reported by Martin et al. (2000), Probst et al. (2004) found skewed X inactivation.