Meier-Gorlin Syndrome 5

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ORC1, CDT1, GMNN, ORC6, CDC6, ORC4, CDC45, BMP5, DRD2, SLC6A3, CYP2D6, MAPK1, MYH9, TLR4, MTOR, RBP4, MCM5, PSEN1, COMT, PTH, MAPK3, SOD1, RELA, PRKCA, PRKACG, RGS2, ATXN2, SLC18A2, VEGFA, SYT1

ORC1, CDT1, GMNN, ORC6, CDC6, ORC4, CDC45, BMP5, DRD2, SLC6A3, CYP2D6, MAPK1, MYH9, TLR4, MTOR, RBP4, MCM5, PSEN1, COMT, PTH, MAPK3, SOD1, RELA, PRKCA, PRKACG, RGS2, ATXN2, SLC18A2, VEGFA, SYT1, TGFB1, TNF, PIK3CG, PDPN, POSTN, CHEK2, PLCB1, SIRT1, ORC3, DISC1, CLEC7A, GORASP1, WNK1, PLA2G4A, ACTG1, PIK3CA, HTR2A, ASPH, BRCA2, BSG, CD2, COL1A1, CRP, CCN2, DRD3, EPHB2, FANCD2, FASN, FOXM1, GNAS, GRIK3, IL6, SERPINE1, IL10, INSR, ITPR1, LEP, CYP4F3, LY6E, LYZ, MAOB, MCM2, ATXN3, NOS2, ACTB, APOE, PAEP, ACHE

Drugs

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A number sign (#) is used with this entry because of evidence that Meier-Gorlin syndrome-5 (MGORS5) is caused by homozygous mutation in the CDC6 gene (602627) on chromosome 17q21. One such patient has been reported.

For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690.

Clinical Features

Bongers et al. (2001) described a 4.5-year-old boy, born of nonconsanguineous Gypsy parents from France, who had weight, length, and head circumference all below the 3rd centile at birth; he also had bilateral microtia, a small triangular face, and a submucous cleft palate, with gastroesophageal reflux and feeding problems in the first year of life. At 4 years of age, his height, weight, and head circumference were still below the 3rd centile; additional craniofacial anomalies included a prominent metopic suture, long philtrum, full lips, small teeth, micrognathia, bilateral absent helices, hypoplastic lobules, and small external ear canals. He had micropenis and cryptorchidism, fifth finger and toe clinodactyly, and hypermobility of the fingers, elbows, shoulders, and knees; absence of the patellae was confirmed by radiography and ultrasonography. Skeletal survey showed hypoplastic and irregular epiphyses of the femora and tibiae, elbow dislocation, and a bone age of 2.5 years at a chronologic age of 4.5 years. Psychomotor development was slightly retarded.

Molecular Genetics

In a 7-year-old Gypsy boy with Meier-Gorlin syndrome who was originally reported by Bongers et al. (2001), Bicknell et al. (2011) identified homozygosity for a missense mutation in the CDC6 gene (602627.0001).