A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features
JOURNAL OF HUMAN GENETICS(2018)
摘要
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 ( DPH1 , NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c.1227delG, p.[Ala411Argfs*91]) was identified, which is likely responsible for the familial condition. The unique clinical features of the affected siblings are cleft palate and absent renal findings.
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关键词
Next-generation sequencing,Paediatric neurological disorders,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy
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