Goiter, Multinodular 2

Description

Multinodular goiter is a common disorder characterized by nodular enlargement of the thyroid gland. It occurs with a female:male ratio of 5:1 (summary by Capon et al., 2000).

For additional phenotypic information and a discussion of genetic heterogeneity of multinodular goiter, see MNG1 (138800).

Inheritance

Capon et al. (2000) reported a 3-generation Italian family in which 10 females and 2 males had multinodular goiter. Because no male-to-male transmission was present in the pedigree, an X-linked dominant pattern of inheritance was hypothesized.

Mapping

By linkage analysis in a 3-generation Italian family segregating multinodular goiter unlinked to the MNG1 locus on chromosome 14q, Capon et al. (2000) identified a maximum lod score of 4.73 at a recombination fraction of zero with marker DXS1226 in the Xp22 region. Haplotype analysis delimited a 9.6-cM interval containing the gene.