SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

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• 作者：Krzysztof Szczałuba ; Monika Brzezinska ; Justyna Kot ; Małgorzata Rydzanicz ; Anna Walczak ; Piotr Stawiński ; Bożena Werner and Rafał Płoski
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：170
• 期：9
• 页码：2322-2327
• 全文大小：288K
• ISSN：1552-4833

文摘

Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes.