title: Berardinelli-Seip congenital lipodystrophy.
abstract: Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.
authors.affiliation: Department of Pediatrics and Dermato-logy, Kalawati Saran Childrens Hospital, New Delhi 110 001, India. kaushik_pediatrics@yahoo.co.uk
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.forename: S
authors.initials: S
authors.lastname: Aneja
authors.forename: A
authors.initials: A
authors.lastname: Seth
authors.forename: Anamita
authors.initials: A
authors.lastname: Khan
mesh_terms: D002675:Child, Preschool; D003923:Diabetes Mellitus, Lipoatrophic / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D014427:Twins
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits