A family study of mandibuloacral dysplasia with type A lipodystrophy
10.3969/j.issn.1000-3606.2014.11.021
- VernacularTitle:下颌骨发育不良伴A型脂肪代谢障碍一家系报告
- Author:
Shang XIANG
;
Xuan ZHANG
;
Xueyi LI
;
Yang BI
;
Nong XIAO
- Publication Type:Journal Article
- Keywords:
progeria;
LMNA gene;
family study
- From:
Journal of Clinical Pediatrics
2014;(11):1084-1088
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the gene mutations and clinical features of mandibuloacral dysplasia with type A lipodystrophy (MADA) in a Chinese family. Methods The information of 5 family members including 2 siblings suspected atyp-ical progeria was assembled. Genomic DNA was extracted from peripheral blood of 5 family members, the 12 exons of LMNA gene were ampliifed by PCR and then the PCR products were directly sequenced and analyzed by using Blast software online. The SIFT and PolyPhen-2 software were used to predict the harmfulness of mutations. Results The 2 siblings were clinically diagnosed as MADA. Heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations were detected in this family. The father carried c.1583C>T (p.Thr528Met) mutation, the mother carried c.1579C>T (p.Arg527Cys) mutation, and their normal daughter were all heterozygous carriers with c.1583C>T (p.Thr528Met) mutation. Compound heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations in 2 siblings led to MADA. The MADA showed an autosomal re-cessive inheritance pattern in this family. Conclusions The 2 siblings with MADA in this family were caused by compound heterozygous mutations in LMNA gene.
