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Article

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

Journal of human genetics - 1 Apr 2018

Nakajima Junya, Oana Shingo, Sakaguchi Tomohiro, Nakashima Mitsuko, Numabe Hironao, Kawashima Hisashi, Matsumoto Naomichi, Miyake Noriko

Abstract excerpt

The diphthamide biosynthesis 1 (DPH1) gene encodes one of the essential components of the enzyme catalyzing the first step of diphthamide formation on eukaryotic elongation factor 2 (EEF2). Diphthamide is the posttranslationally modified histidine residue on EEF2 that promotes protein chain elongation in the ribosome. DPH1 defects result in a failure of protein synthesis involving EEF2, leading to growth defects,...

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Source

Identifiers

PMID: 29362492
DOI: 10.1038/s10038-017-0399-2

Genes

DPH1
EEF2

Variants

Provenance

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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