A novel gene mutation in Berardinelli Seip Syndrome: Three case reports
نویسندگان
چکیده
منابع مشابه
A case of Berardinelli-Seip syndrome presenting with cirrhosis.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentatio...
متن کاملBerardinelli-Seip syndrome in a Chinese boy with Seipin gene mutation: a case study and literature review of genotype-phenotype
Objective Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare and heterogeneous disease of autosomal recessive inheritance characterized by the generalized absence of adipose tissue at birth and severe adverse metabolic consequences. The identified causative genes for CGL include 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip congenit...
متن کاملBerardinelli-Seip Congenital Lipodystrophy: Report of an Iranian Girl with a Novel Mutation of BSCL2 Gene
Congenital generalized lipodystrophies (CGLs) are very rare autosomal recessive disorders which have four types. Of the four CGL types, BSCL2 (Berardinelli–Seip Congenital lipodystrophy type 2) is the result of mutations in the BSCL2/seipin gene. BSCL2 that is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth, acanthosis nigricans, hepatomegaly, ...
متن کاملA Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کاملBerardinelli-Seip syndrome in a 6-year-old boy.
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with...
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ژورنال
عنوان ژورنال: Endocrine Abstracts
سال: 2016
ISSN: 1479-6848
DOI: 10.1530/endoabs.41.gp74