Berardinelli-Seip congenital lipodystrophy.
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.
Mandal
Kausik
K
Department of Pediatrics and Dermato-logy, Kalawati Saran Childrens Hospital, New Delhi 110 001, India. kaushik_pediatrics@yahoo.co.uk
Aneja
S
S
Seth
A
A
Khan
Anamita
A
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
C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits