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Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus

Departments of ¹ Endocrinology and Metabolism and ² Pediatric Institute, Children's Hospital of Fudan University, Shanghai 200032, China³ Department of Pediatrics, Hospital for Children and Adolescence, University of Leipzig, Leipzig, Wieland Kiess D-04317, Germany and⁴ Department of Pathology, Children's Hospital of Fudan University, Shanghai 200032, China

(Correspondence should be addressed to F Luo who is now at Department of Pediatric Endocrinology and Metabolism, Children's Hospital of Fudan University, 183 Feng Lin Road, Shanghai 200032, China; Email: doctorlfh{at}yahoo.com.cn)

Abstract

Context: Congenital generalized lipodystrophy (CGL) is a rare and heterogeneous disease of autosomal recessive inheritance. Until now, no genetic findings had been reported in Chinese patients with CGL.

Objective: To analyze Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) and 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) gene variation in a Chinese boy with CGL and his family.

Design, setting, and participants: All exons of BSCL2 and AGPAT2 with adjacent intron–exon junctions were analyzed using direct sequencing.

Main outcome measures: Sequences of each exon and nearby intron of the BSCL2 and AGPAT2 genes of the family members were compared with the gene bank genomic sequences.

Results: DNA sequence analysis of the entire coding regions and surrounding uncoding regions disclosed a novel homozygous GT mutation at nucleotide 909 in exon 5 of the BSCL2 gene in the affected child. A heterozygous state of the GT mutation of the BSCL2 gene was also found in other family members. This mutation predicts the substitution of glutamic acid at codon 189 by the stop codon (Glu189X or E189X). No variation was found in the AGPAT2 gene.

Conclusion: E189X is a novel BSCL2 gene mutation that contributes to CGL formation in a family of Chinese origin.

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