Berardinelli-Seip congenital lipodystrophy.
Indian Pediatr
;
2006 May; 43(5): 440-5
Article
in English
| IMSEAR
| ID: sea-8434
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Twins
/
Humans
/
Male
/
Child, Preschool
/
GTP-Binding Protein gamma Subunits
/
Diabetes Mellitus, Lipoatrophic
/
Diseases in Twins
/
Infant
/
Kidney Diseases
/
Mutation
Type of study:
Prognostic study
Language:
English
Journal:
Indian Pediatr
Year:
2006
Type:
Article
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