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

Wenzheng Zhang, Ruthie Amir, David W. Stockton, Ignatia B. Van Den Veyver, Carlos A. Bacino, Huda Y. Zoghbi

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


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 unaffected individuals, using 40 polymorphic markers evenly distributed throughout the X chromosome. Twopoint and multipoint linkage analyses using informative markers excluded most of the X chromosome and demonstrated linkage to a region on the long arm between DXS548 and Xqter. A maximum LOD score of 3.16 at recombination fraction 0 was obtained for five markers mapping to Xq27.3-Xq28. The mapping data should facilitate the identification of the molecular basis of this disorder.

Original languageEnglish
Pages (from-to)1461-1464
Number of pages4
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - 2000


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