期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 170, 期 5, 页码 1330-1332出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37580
关键词
DEAF1 protein; human; exome; clinical diagnostic sequencing; consanguinity; microcephaly; intellectual disability
资金
- Ambry Genetics
We evaluated a 13-year-old East Pakistani male affected with microcephaly, apparent intellectual disability, hypotonia, and brisk reflexes without spasticity. His parents were first cousins. The patient also had a brother who was similarly affected and died at 10 years due to an accident. Previous SNP array testing showed a 1.63 Mb duplication at 16p13.11 of uncertain significance along with regions of homozygosity. Exome sequencing identified a known pathogenic homozygous alteration in DEAF1, c.676C>T (p.R226W), in this patient. The alteration had been reported in two individuals from a consanguineous Saudi Arabian family. Both individuals had microcephaly, intellectual disability, hypotonia, feeding difficulties, and poor growth. The patient reported here did not have evidence of white matter disease, as had been reported with prior patients. We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome. (C) 2016 Wiley Periodicals, Inc.
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