Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

Aghdam, M. N. and Abbaszadegan, M. R. and Tafazoli, A. and Aslzare, M. and Mosavi, Z. (2016) Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A. Hormones, 15 (1). pp. 65-72.

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PURPOSE: Multiple Endocrine Neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germ line RET (REarranged in Transfection) mutation is required to make the diagnosis and initiate genetic counseling. METHODS: We analyzed blood DNA from three Iranian families with three generations of MEN2A including 20 affected individuals with MTC and four with pheochromocytoma. RET hotspots were amplified in probands and sequenced for mutation detection. RESULT: The causative mutation in all families was found to be the Cys634Tyr missense substitution. The presence of a functional SNP resulting in Gly691Ser was also detected in exon 11 of 15 affected cases. Four patients showed both of these RET variations. CONCLUSION: Our study shows that the Cys634Tyr missense substitution and the Gly691Ser polymorphism are recurrent in Iranian patients, since our families are unrelated. All asymptomatic carriers of the Cys634Tyr high-risk activating mutation were referred for prophylactic thyroidectomy. © 2016, Hellenic Endocrine Society. All rights reserved.

Item Type: Article
Additional Information: Cited By :1 Export Date: 16 February 2020 Correspondence Address: Mosavi, Z.; Endocrine Research Center, Imam Reza/Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Vakil-Abad Street, Iran; email:
Uncontrolled Keywords: Cys634Tyr mutation Gly691Ser polymorphism Multiple endocrine neoplasia type 2A RET proto-oncogene protein Ret cystine genomic DNA glycine serine tyrosine RET protein, human adult amino acid substitution Article clinical article controlled study DNA sequence female gene amplification gene sequence genetic counseling genetic risk genetic screening genetic variability human Iranian people male missense mutation restriction fragment length polymorphism RET gene single nucleotide polymorphism codon exon gene gene mutation genetic variation pheochromocytoma thyroid medullary carcinoma adrenal tumor genetic polymorphism genetic predisposition genetics Iran medullary carcinoma metabolism pedigree thyroid tumor Adrenal Gland Neoplasms Carcinoma, Medullary Genetic Predisposition to Disease Humans Polymorphism, Genetic Proto-Oncogene Proteins c-ret Thyroid Neoplasms
Subjects: WK Endocrine System
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib4 lib4
Date Deposited: 03 Mar 2020 10:38
Last Modified: 03 Mar 2020 10:38

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