A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene

作者：Gao Jinzhi; Li Yuanyuan; Fu Xi; Luo Xiaoping^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2012, 25(3-4): 375-377.

DOI：10.1515/jpem-2012-0007

• acquired partial lipodystrophy
• gene
• LMNB2
• mutation

Acquired partial lipodystrophy (APL) is a rare disorder, mainly characterized by progressive loss of subcutaneous fatty tissue, starting from the face and spreading to the upper part of the body. The etiology of APL is unknown. It may be caused by mutations in the lamin B 2 (LMNB2) gene on 19p13.3. We present a Chinese patient who had APL for 12 years, which initially affected her face. She also suffered from marked fatty liver and a mild metabolic disorder. We identified a heterozygous T to C transition in exon 5 of the LMNB2 gene (c.694T>C), and, consequently, tyrosine for histidine (p. Y232H). However, these features and the mutation were absent in her parents. The p. Y232H has not been described previously. We provide clinical data to the genotype-phenotype discussion and further expanded the number of LMNB2 mutations.

• 出版日期2012-4
• 单位华中科技大学