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Article

AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.

Annales d'endocrinologie - 1 Feb 2013

Rostami Parastoo, Nakhaeimoghadam Maryam, Bijani Faezeh-Moghimpour, Sotoudeh Arya, Rabbani Ali, Hilbert Pascale, Rezaei Nima

Abstract excerpt

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. Laboratory studies revealed an elevated level of serum triglyceride....

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Identifiers

PMID: 23337016
DOI: 10.1016/j.ando.2012.11.008

Genes

AGPAT2

Variants

Provenance

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AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.PMID 23337016Read ↗

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Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrumSemantic proximity Read ↗

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.Semantic proximity Read ↗

Prevalence of mutations in AGPAT2 among human lipodystrophies.Semantic proximity Read ↗

Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.Semantic proximity Read ↗

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