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

Gao J, Li Y, Fu X, Luo X

Institution

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Source

Journal of pediatric endocrinology & metabolism : JPEM 25:3-4 2012 pg 375-7

MeSH

Adult
Asian Continental Ancestry Group
Exons
Female
Heterozygote
Humans
Lamin Type B
Lipodystrophy
Mutation
Prognosis

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22768673