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.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Mandal K,Aneja S,Seth A,Khan A

subject

Has Abstract

pub_date

2006-05-01 00:00:00

pages

440-5

issue

5

eissn

0019-6061

issn

0974-7559

journal_volume

43

pub_type

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