title: Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
abstract: 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 have been assigned to each type.
  
  
  METHODS
  The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family. For mutation screening all the coding exons including splice junctions of AGPAT2, BSCL2, CAV1 and PTRF genes were PCR amplified and sequenced directly using an automated DNA sequencer ABI3730.
  
  
  RESULTS
  Sequence analysis revealed a single base pair deletion mutation (c.636delC; p.Tyr213ThrfsX20) in exon 5 of BSCL2 gene causing a frame shift and premature termination codon.
  
  
  CONCLUSIONS
  Mutation identified here in BSCL2 gene causing congenital generalized lipodystrophy is the first report in Pakistani population. The patients exhibited characteristic features of generalized lipodystrophy, Acanthosis nigricans, diabetes mellitus and hypertrophic cardiomyopathy.
  The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1913913076864247.
authors: Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25000, Pakistan.
authors: Obaid Ur
authors: OU
authors: Rahman
authors: Nadeem
authors: N
authors: Khawar
authors: Muhammad Aman
authors: MA
authors: Khan
authors: Jawad
authors: J
authors: Ahmed
authors: Kamran
authors: K
authors: Khattak
authors: Jumana Yousuf
authors: JY
authors: Al-Aama
authors: Muhammad
authors: M
authors: Naeem
authors: Musharraf
authors: M
authors: Jelani
mesh_terms: D000052:Acanthosis Nigricans / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C432679:BSCL2 protein, human; D018389:Codon, Nonsense; D044388:GTP-Binding Protein gamma Subunits
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