A family study of mandibuloacral dysplasia with type A lipodystrophy

  •  Xiang Shang ,
  • Zhang Xuan ,
  • Li Xueyi ,
  • Bi Yang ,
  • Xiao Nong
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  • 1.Department of Children Rehabilitation, Children’s Hospital of Chongqing Medical University, Chongqing 400014,China;2. Ministry of Education Key Laboratory of Developmental Diseases in Childhood, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders,Chongqing 400014,China

Received date: 2014-11-15

  Online published: 2014-11-15

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 atypical progeria was assembled. Genomic DNA was extracted from peripheral blood of 5 family members, the 12 exons of LMNA gene were amplified 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 recessive inheritance pattern in this family. Conclusions The 2 siblings with MADA in this family were caused by compound heterozygous mutations in LMNA gene.

Cite this article

 Xiang Shang , Zhang Xuan , Li Xueyi , Bi Yang , Xiao Nong . A family study of mandibuloacral dysplasia with type A lipodystrophy[J]. Journal of Clinical Pediatrics, 2014 , 32(11) : 1084 . DOI: 10.3969 j.issn.1000-3606.2014.11.021

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