例如:"lncRNA", "apoptosis", "WRKY"

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

J Hum Genet. 2018 Apr;63(4):487-491. Epub 2018 Feb 06
Futoshi Sekiguchi 1 , Jafar Nasiri 2 , Maryam Sedghi 3 , Mansoor Salehi 3 , Majid Hosseinzadeh 4 , Nobuhiko Okamoto 5 , Takeshi Mizuguchi 1 , Mitsuko Nakashima 1 , Satoko Miyatake 6 , Atsushi Takata 1 , Noriko Miyake 7 , Naomichi Matsumoto 8
Futoshi Sekiguchi 1 , Jafar Nasiri 2 , Maryam Sedghi 3 , Mansoor Salehi 3 , Majid Hosseinzadeh 4 , Nobuhiko Okamoto 5 , Takeshi Mizuguchi 1 , Mitsuko Nakashima 1 , Satoko Miyatake 6 , Atsushi Takata 1 , Noriko Miyake 7 , Naomichi Matsumoto 8
+ et al

[No authors listed]

Author information
  • 1 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • 2 Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, 8174675346, Iran.
  • 3 Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, 8174675731, Iran.
  • 4 Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, 1417613151, Iran.
  • 5 Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, 594-1101, Japan.
  • 6 Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
  • 7 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. nmiyake@yokohama-cu.ac.jp.
  • 8 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. naomat@yokohama-cu.ac.jp.

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.