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Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1.
Chin Med J (Engl). 2010 Mar 05; 123(5):569-73.CM

Abstract

BACKGROUND

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome which is caused by germline mutations of the tumor suppressor gene MEN1. This study aimed to identify mutations in a Chinese pedigree with MEN1.

METHODS

A large Chinese family with MEN1 was collected. All of the coded regions and their adjacent sequences of the MEN1 gene were amplified and sequenced.

RESULTS

In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3 + 18C > T).

CONCLUSIONS

The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3 + 18C > T of MEN1 needs a further investigation.

Authors+Show Affiliations

Department of Endocrinology, Shanghai Fifth People's Hospital, Shanghai Medical School, Fudan University, Shanghai 200240, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20367983

Citation

Zha, Bing-bing, et al. "Mutation Analysis in a Chinese Family With Multiple Endocrine Neoplasia Type 1." Chinese Medical Journal, vol. 123, no. 5, 2010, pp. 569-73.
Zha BB, Liang W, Liu J, et al. Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1. Chin Med J (Engl). 2010;123(5):569-73.
Zha, B. B., Liang, W., Liu, J., Cheng, J., Hong, X. W., Liu, J., Li, Y. M., & Ma, D. (2010). Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1. Chinese Medical Journal, 123(5), 569-73.
Zha BB, et al. Mutation Analysis in a Chinese Family With Multiple Endocrine Neoplasia Type 1. Chin Med J (Engl). 2010 Mar 5;123(5):569-73. PubMed PMID: 20367983.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1. AU - Zha,Bing-bing, AU - Liang,Wang, AU - Liu,Jun, AU - Cheng,Juan, AU - Hong,Xiao-wu, AU - Liu,Jing, AU - Li,Yi-ming, AU - Ma,Duan, PY - 2010/4/7/entrez PY - 2010/4/7/pubmed PY - 2010/6/30/medline SP - 569 EP - 73 JF - Chinese medical journal JO - Chin Med J (Engl) VL - 123 IS - 5 N2 - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome which is caused by germline mutations of the tumor suppressor gene MEN1. This study aimed to identify mutations in a Chinese pedigree with MEN1. METHODS: A large Chinese family with MEN1 was collected. All of the coded regions and their adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS: In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3 + 18C > T). CONCLUSIONS: The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3 + 18C > T of MEN1 needs a further investigation. SN - 2542-5641 UR - https://www.unboundmedicine.com/medline/citation/20367983/Mutation_analysis_in_a_Chinese_family_with_multiple_endocrine_neoplasia_type_1_ L2 - https://Insights.ovid.com/pubmed?pmid=20367983 DB - PRIME DP - Unbound Medicine ER -