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Article

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.

European journal of medical genetics - 1 Apr 2015

Jelani Musharraf, Ahmed Saleem, Almramhi Mona Mohammad, Mohamoud Hussein Sheikh Ali, Bakur Khadijah, Anshasi Waseem, Wang Jun, Al-Aama Jumana Yousuf

Abstract excerpt

Congenital generalized lipodystrophies (CGLs) are a heterogeneous group of rare, monogenic disorders characterized by loss of sub-cutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism and mental retardation. Four different but overlapping phenotypes (CGL1-4) have been identified, which are caused by mutations in AGPAT2 at 9q34.3, BSCL2 at 11q13, CAV1 at...

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Source

Identifiers

PMID: 25721873
DOI: 10.1016/j.ejmg.2015.02.002

Genes

AGPAT2
BSCL2
CAV1

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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