title: A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene.
abstract: 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.
authors: Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
authors: Jinzhi
authors: J
authors: Gao
authors: Yuanyuan
authors: Y
authors: Li
authors: Xi
authors: X
authors: Fu
authors: Xiaoping
authors: X
authors: Luo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D034921:Lamin Type B / Q000235:genetics*; D008060:Lipodystrophy / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D011379:Prognosis
chemical_list: D034921:Lamin Type B