Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.

ABSTRACT: We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading to brachydactyly, camptodactyly, and other digital deformities; pigmentary defects on the face and scalp; and multiple frenula. There were no affected males. We performed X-inactivation studies on seven affected females, using a methylation assay at the androgen receptor locus; all seven demonstrated preferential inactivation of their maternal chromosomes carrying the mutation, and two unaffected females showed a random pattern. These findings indicate that this disorder is linked to the X chromosome. To map the gene for this disorder, we analyzed DNA from nine affected females and five unaffe

SUBMITTER: Zhang W 

PROVIDER: S-EPMC1288215 | biostudies-literature | 2000 Apr

REPOSITORIES: biostudies-literature