ZMYND11（10p15.3缺失综合征的候选基因）中的一个新发突变与综合征性智力残疾相关。
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
作者信息
Cobben J M, Weiss M M, van Dijk F S, De Reuver R, de Kruiff C, Pondaag W, Hennekam R C, Yntema H G
机构信息
Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands; Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
出版信息
Eur J Med Genet. 2014 Nov-Dec;57(11-12):636-8. doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30.
We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndromic intellectual disability are needed before the ZMYND11 mutation identified in our case can be considered as definitely pathogenic.
我们报告了一名患有严重综合征性智力障碍的男孩，其ZMYND11基因存在新发突变。该突变致病性的证据可在文献中的病例中找到，尤其是几例10p15.3缺失且包含ZMYND11的病例。在将我们病例中鉴定出的ZMYND11突变视为明确致病性之前，还需要更多关于综合征性智力障碍病例中ZMYND11突变的报告。
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