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Article

Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.

European journal of medical genetics - 1 Mar 2012

Aggarwal Shagun, Maras Jaswinder Singh, Alam Seema, Khanna Rajeev, Gupta Sanjeev Kumar, Ahuja Arvind

Abstract excerpt

Dorfman-Chanarin syndrome is a rare neutral lipid disorder characterised by icthyosis, hepatic steatosis and multisystemic involvement of varying magnitude. It is an autosomal recessive disease caused by mutations in the ABHD5 gene. We report a consanguineous family of Afgani origin, with four affected siblings who were found to have a novel homozygous nonsense mutation g. [27606 G > T]; [27606 G > T]. The...

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Source

Identifiers

PMID: 22373837
DOI: 10.1016/j.ejmg.2012.01.013

Genes

ABHD5

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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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Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.PMID 22373837Read ↗

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Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.Semantic proximity Read ↗

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.Semantic proximity Read ↗

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