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A Novel Homozygous Dph1 Mutation Causes Intellectual Disability and Unique Craniofacial Features Publisher Pubmed



Sekiguchi F1 ; Nasiri J2 ; Sedghi M3 ; Salehi M3 ; Hosseinzadeh M4 ; Okamoto N5 ; Mizuguchi T1 ; Nakashima M1 ; Miyatake S1, 6 ; Takata A1 ; Miyake N1 ; Matsumoto N1
Authors
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Authors Affiliations
  1. 1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan
  2. 2. Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, 8174675346, Iran
  3. 3. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, 8174675731, Iran
  4. 4. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, 1417613151, Iran
  5. 5. Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, 594-1101, Japan
  6. 6. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan

Source: Journal of Human Genetics Published:2018


Abstract

Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM-001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM603527). 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.[Ala411Argfs91]) 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. © 2018 The Japan Society of Human Genetics.