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Article

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Diagnostic pathology - 9 May 2013

Rahman Obaid Ur, Khawar Nadeem, Khan Muhammad Aman, Ahmed Jawad, Khattak Kamran, Al-Aama Jumana Yousuf, Naeem Muhammad, Jelani Musharraf

Abstract excerpt

BACKGROUND: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF...

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Source

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Identifiers

PMID: 23659685
DOI: 10.1186/1746-1596-8-78
PMCID: PMC3655832

Genes

BSCL2
AGPAT2
CAV1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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