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

作者：Sekiguchi Futoshi; Nasiri Jafar; Sedghi Maryam; Salehi Mansoor; Hosseinzadeh Majid; Okamoto Nobuhiko; Mizuguchi Takeshi; Nakashima Mitsuko; Miyatake Satoko; Takata Atsushi; Miyake Noriko^*; Matsumoto Naomichi^*

来源：Journal of Human Genetics, 2018, 63(4): 487-491.

DOI：10.1038/s10038-017-0404-9

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.

• 出版日期2018-4