期刊
CLINICAL GENETICS
卷 79, 期 1, 页码 79-85出版社
WILEY-BLACKWELL PUBLISHING, INC
DOI: 10.1111/j.1399-0004.2010.01590.x
关键词
aCGH; autism; candidate gene; deletion in Xp22; 11; intellectual disability; PTCHD1; X-linked inheritance
资金
- University of Basel [DMS2058]
Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder cosegregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Although the exact function of this gene is unknown to date, the structural overlap of its encoded patched domain-containing protein 1, the transmembrane protein involved in the sonic hedgehog pathway, and its expression in human cortex and cerebellum as well as in mice and drosophila brain suggests a causative role of its nullisomy in the developmental phenotype of our family. Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders.
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