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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-02-06

AUTHORS

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

ABSTRACT

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. More... »

PAGES

487-491

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-017-0404-9

DOI

http://dx.doi.org/10.1038/s10038-017-0404-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100829294

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29410513


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