A Novel Mutation (D631del) of the RET Gene Was Associated with MEN2A in a Chinese Pedigree

Endocrine Journal

Hua LIANG¹  Ting-ting DONG¹  Xiong CHEN¹  Bin YAO¹  Xue LIU²  Zhi-min HUANG¹  Jian-ping WENG¹ 

[1]Department of Endocrinology, First Affiliated Hospital of Sun Yat-Sen University

[2]Current address: Guangdong Provincial people's Hospital

关键词: Multiple endocrine neoplasia type 2A;    RET gene;    Deletion mutation;   

DOI  :  10.1507/endocrj.K08E-066

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(24)Cited-By(1)Germline mutations in the RET proto-oncogene (RET gene) are well documented as the genetic causes of multiple endocrine neoplasia type 2A (MEN2A). We performed genetic analysis by direct RET gene mutation analysis in a Chinese MEN2A family and compared these results with biochemical screening tests and pathological examinations. Twenty-one exons and flanking introns of the RET gene were amplified using polymerase chain reaction (PCR). The PCR products were subjected to sequencing directly, or cloned into pGEM-T plasmids and sequenced. Restriction fragment length polymorphism (RFLP) was employed to confirm the mutation on the RET sequence. A novel heterozygous mutation of a 3-bp (GAC) deletion at codon 631 (D631del) of exon 11, resulting in the deletion of an aspartic acid at the locus, was identified in four MEN2A patients and one phenotypically normal family member. The average clinical onset-age of four MEN2A patients was 33.7 years, no cervical lymph node metastasis was found in MEN2A patients with medullary thyroid carcinoma in the family. The study indicated that the novel heterozygous deletion mutation at D631 of RET gene was co-segregated with MEN2A phenotype and promoted the development of MEN2A. This report is the first description of the D631del mutation in the family with MEN2A.

【 授权许可】

Unknown