Gao Jinzhi, Li Yuanyuan, Fu Xi, Luo Xiaoping
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
J Pediatr Endocrinol Metab. 2012;25(3-4):375-7. doi: 10.1515/jpem-2012-0007.
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 hadAPL 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.
获得性部分脂肪营养不良（APL）是一种罕见疾病，主要特征为皮下脂肪组织进行性丧失，始于面部并蔓延至身体上部。APL的病因尚不清楚。它可能由19p13.3上的核纤层蛋白B2（LMNB2）基因突变引起。我们报告一名患APL达12年的中国患者，该病最初累及她的面部。她还患有明显的脂肪肝和轻度代谢紊乱。我们在LMNB2基因第5外显子中鉴定出一个杂合的T到C转换（c.694T>C），结果导致酪氨酸替换组氨酸（p.Y232H）。然而，这些特征和突变在她的父母中并不存在。p.Y232H此前尚未见报道。我们为基因型-表型的讨论提供了临床数据，并进一步扩充了LMNB2突变的数量。
