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Evidence that SIZN1 is a candidate X‐linked mental retardation gene
Author(s) -
Cho Ginam,
Bhat Shambhu S.,
Gao Jinsong,
Collins Julianne S.,
Rogers R. Curtis,
Simensen Richard J.,
Schwartz Charles E.,
Golden Jeffrey A.,
Srivastava Anand K.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32472
Subject(s) - gene , candidate gene , genetics , x chromosome , biology , neurocognitive , chromosome , neuroscience , cognition
An estimated 1–3% of individuals within the United States are diagnosed with mental retardation (MR), yet the cause is unknown in nearly 50% of the patients. While several environmental, genetic and combined teratogenetic etiologies have been identified, many causative genes remain to be identified. Furthermore, the pathogenetic mechanisms underlying MR are known for very few of these genes. Males have a much higher incidence of MR implicating genes on the X‐chromosome. We have recently identified a novel gene, SIZN1 , on the X‐chromosome and showed that it functions in modulating the BMP signaling pathway. Furthermore, we have shown this gene is necessary for basal forebrain cholinergic neuron (BFCN) specific gene expression. Given that cognitive function is impaired when BFCNs are lost or functionally disrupted, we undertook a screen of cognitively impaired males for SIZN1 mutations. We report on four different sequence variants in SIZN1 in 11 individuals with nonsyndromic X‐linked mental retardation(XLMR). Our data implicate SIZN1 as a candidate gene for XLMR and/or as a neurocognitive functional modifier. © 2008 Wiley‐Liss, Inc.