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Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.
Eur J Hum Genet. 2003 May; 11(5):364-8.EJ

Abstract

Germline mutations in the RET proto-oncogene are responsible for the development of human hereditary diseases, including multiple endocrine neoplasia (MEN) type 2A and 2B, familial medullary thyroid carcinoma (FMTC), and Hirschsprung's disease (HSCR). It has been reported that some families developed both MEN 2A/FMTC and HSCR, in which a mutation in a cysteine residue at codon 609, 618, or 620 in the RET gene was present. Here we report a novel RET mutation detected in a Japanese family with medullary thyroid carcinoma and HSCR. A germline mutation in cysteine 611 of the RET gene was identified in this family, which introduced an amino-acid change from cysteine to serine. By biological and biochemical analyses of mutant RET proteins, we previously predicted the potentiality that amino-acid substitution for cysteine 611 as well as cysteines 609, 618, and 620 would promote the development of MEN 2A/FMTC and HSCR. This clinical case substantiates our suggestion for the mechanism of the development of both the diseases.

Authors+Show Affiliations

Department of Pathology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.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)

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

Language

eng

PubMed ID

12734540

Citation

Nishikawa, Mikiko, et al. "Cys611Ser Mutation in RET Proto-oncogene in a Kindred With Medullary Thyroid Carcinoma and Hirschsprung's Disease." European Journal of Human Genetics : EJHG, vol. 11, no. 5, 2003, pp. 364-8.
Nishikawa M, Murakumo Y, Imai T, et al. Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. Eur J Hum Genet. 2003;11(5):364-8.
Nishikawa, M., Murakumo, Y., Imai, T., Kawai, K., Nagaya, M., Funahashi, H., Nakao, A., & Takahashi, M. (2003). Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. European Journal of Human Genetics : EJHG, 11(5), 364-8.
Nishikawa M, et al. Cys611Ser Mutation in RET Proto-oncogene in a Kindred With Medullary Thyroid Carcinoma and Hirschsprung's Disease. Eur J Hum Genet. 2003;11(5):364-8. PubMed PMID: 12734540.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. AU - Nishikawa,Mikiko, AU - Murakumo,Yoshiki, AU - Imai,Tsuneo, AU - Kawai,Kumi, AU - Nagaya,Masahiro, AU - Funahashi,Hiroomi, AU - Nakao,Akimasa, AU - Takahashi,Masahide, PY - 2003/5/8/pubmed PY - 2003/12/25/medline PY - 2003/5/8/entrez SP - 364 EP - 8 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 11 IS - 5 N2 - Germline mutations in the RET proto-oncogene are responsible for the development of human hereditary diseases, including multiple endocrine neoplasia (MEN) type 2A and 2B, familial medullary thyroid carcinoma (FMTC), and Hirschsprung's disease (HSCR). It has been reported that some families developed both MEN 2A/FMTC and HSCR, in which a mutation in a cysteine residue at codon 609, 618, or 620 in the RET gene was present. Here we report a novel RET mutation detected in a Japanese family with medullary thyroid carcinoma and HSCR. A germline mutation in cysteine 611 of the RET gene was identified in this family, which introduced an amino-acid change from cysteine to serine. By biological and biochemical analyses of mutant RET proteins, we previously predicted the potentiality that amino-acid substitution for cysteine 611 as well as cysteines 609, 618, and 620 would promote the development of MEN 2A/FMTC and HSCR. This clinical case substantiates our suggestion for the mechanism of the development of both the diseases. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/12734540/Cys611Ser_mutation_in_RET_proto_oncogene_in_a_kindred_with_medullary_thyroid_carcinoma_and_Hirschsprung's_disease_ L2 - http://www.diseaseinfosearch.org/result/3429 DB - PRIME DP - Unbound Medicine ER -