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Article

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

Journal of human genetics - 1 Apr 2018

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

Abstract excerpt

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,...

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Source

Identifiers

PMID: 29410513
DOI: 10.1038/s10038-017-0404-9

Genes

DPH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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