Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1

Abstract

Objective: This study aimed at identifing mutations in two Chinese genealogies with MEN1. Subjects and methods: Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. Results: A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II. Conclusion: We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.Arq Bras Endocrinol Metab. 2012;56(3):184-9Keywords Multiple endocrine neoplasia type 1; MEN1 gene; germline mutation; menin RESUMO Objetivo: O objetivo deste estudo foi identificar as mutações em duas famílias chinesas com NEM1. Sujeitos e métodos: Três membros das duas famílias chinesas foram estudados. Em todos eles, as regiões codificadoras e sequências adjacentes do gene MEN1 foram amplificadas e sequenciadas. Resultados: Uma alteração heterozigota recorrente de T>A em IVS 4+1 foi encontrada na família I, e uma nova mutação insGAGGTGG (c.703-709dup7bp) levou a um frameshift (p.A237Gfsx13) na família II. Conclusão: Adicionou-se uma nova mutação ao gene MEN1 em pacientes chineses com diagnóstico de NEM1 que vai ser útil no diagnóstico e tratamento da doença. Arq Bras Endocrinol Metab. 2012;56(3):184-9 Descritores Neoplasia endócrina múltipla tipo 1; gene MEN1; mutação germinal

Familial isolated primary hyperparathyroidism/hyperparathyroidism‐jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese

“…Most genetic analyses of familial PHPT have been performed in Caucasians, among which over sixty mutations of CDC73 gene are reported in patients with FIHP/HPT‐JT . Except for MEN, studies of familial or syndromic hyperparathyroidism in the Asian population are still lacking . CDC73 ‐related hyperparathyroidism has only been reported in less than twenty patients with sporadic parathyroid carcinoma in Chinese subjects and in only five Thai patients with sporadic parathyroid carcinoma or atypical adenoma .…”

“…9 Except for MEN, studies of familial or syndromic hyperparathyroidism in the Asian population are still lacking. [10][11][12][13] CDC73-related hyperparathyroidism has only been reported in less than twenty patients with sporadic parathyroid carcinoma in Chinese subjects and in only five Thai patients with sporadic parathyroid carcinoma or atypical adenoma. [14][15][16] The kindreds of FIHP or HPT-JT and relative genetic analysis have not been reported in Chinese population.…”