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Article

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

The British journal of dermatology - 1 Jan 2015

Takeichi T, Nanda A, Aristodemou S, McMillan J R, Lee J, Akiyama M, Al-Ajmi H, Simpson M A, McGrath J A

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous disorder for which subtyping through molecular analysis can help determine the eventual phenotype and prognosis. We used whole-exome sequencing to identify a new homozygous splice-site mutation in ST14 (IVS5+1G>A), encoding matriptase, in a 4-year-old girl with ARCI from a consanguineous Kuwaiti family. Clinically, she also had...

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Identifiers

PMID: 25308318
DOI: 10.1111/bjd.13473

Genes

POMT1

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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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