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Article

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.

Journal of dermatological science - 1 Dec 2015

Shibata Akitaka, Sugiura Kazumitsu, Suzuki Atsushi, Ichiki Takashi, Akiyama Masashi

Abstract excerpt

BACKGROUND: Harlequin ichthyosis (HI), one of the most severe genetic skin disorders, is autosomal recessively inherited. Mutations in ABCA12, which encodes ATP-binding cassette transporter A12 (ABCA12), are known to be the cause of HI. It is very difficult to make precise genetic diagnosis when an exon deletion mutation overlaps the site of another causative point mutation. This combination of mutations may lead...

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Source

Identifiers

PMID: 26475431
DOI: 10.1016/j.jdermsci.2015.10.003

Genes

ABCA12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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