Detection of congenital generalized lipodystrophy mutations by next-generation sequencing: time for a new approach
نویسندگان
چکیده
Background Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life. There are four CGL syndromes described (CGL-1 to 4) caused by mutations in AGPAT2, BSCL2, CAV1 and PTRF. The mutations in AGPAT2 and BSCL2 are responsible for 95% of reported cases worldwide and 87% in Brazilian reported cases. BSCL2 variants usually lead to more severe symptoms in comparison to AGPAT2 ones.
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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, ...
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