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Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A

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Title Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A
 
Creator Guo, Yi
Xu, Hongbo
Ren, Zuhai
Yang, Yongjia
Xiong, Wei
Gao, Kai
Li, Xiaorong
Luo, Ziqiang
Deng, Hao
 
Subject Multiple endocrine neoplasia type 2 (MEN2A)
RET
p.Cys634Arg
Mutation
 
Description 26-31
Multiple endocrine
neoplasia type 2 (MEN2) is an autosomal dominant disorder that can be
distinguished as three different syndromes: multiple endocrine neoplasia type 2A (MEN2A), MEN2B and familial medullary thyroid carcinoma
(FMTC). This disorder is usually caused by the
mutations of the rearranged during transfection protooncogene gene (RET) or the neurotrophic tyrosine kinase
receptor type 1 gene (NTRK1). To investigate the genetic cause in a
Chinese Han family with MEN2A
and the genotype-phenotype correlations, nine members belonging to 3
generations of MEN2A family
with 5 affected subjects underwent genetic analysis. Standard GTG-banded
karyotype analysis and sequencing of the RET
and NTRK1 genes were performed to
identify the genetic cause of this family. A heterozygous mutation p.Cys634Arg
in the RET gene was identified in 5
patients with MEN2A and one
asymptomatic family member. The phenotype of patients was that of classic MEN2A,
characterized by medullary thyroid carcinoma and phaeochromocytoma. The
clinical features of all cases with RET
mutations varied greatly, including onset age of clinical manifestations,
severity and comorbidities.
Thus, this study not only identified the hereditary nature of the MEN2A in the cases, but also discovered a family
member harboring the same p.Cys634Arg mutation, who was unaware of his
condition. These finding may provide new insights into the cause and diagnosis
of MEN2A and have
implications for genetic counseling.
 
Date 2013-02-23T11:25:31Z
2013-02-23T11:25:31Z
2013-02
 
Type Article
 
Identifier 0975-0959 (Online); 0301-1208 (Print)
http://hdl.handle.net/123456789/16063
 
Language en_US
 
Rights CC Attribution-Noncommercial-No Derivative Works 2.5 India
 
Publisher NISCAIR-CSIR, India
 
Source IJBB Vol.50(1) [February 2013]