title: [Clinical features and mutations of RET proto-oncogene in a pedigree affected with type 2A multiple endocrine neoplasia].
abstract: OBJECTIVE
  To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A).
  
  
  METHODS
  Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced.
  
  
  RESULTS
  A missense mutation p.C634W was detected in 8 members from the family. Among them, 3 were diagnosed with pheochromocytoma, 1 with medullary thyroid carcinoma, 1 with medullary thyroid carcinoma and pheochromocytoma, 1 with medullary thyroid carcinoma and hyperparathyroidism. One member was found with thyroid enlargement but refused further examination, and another one was identified as carrier of the RET gene mutation.
  
  
  CONCLUSIONS
  A p.C634W mutation has been detected in a family affected with MEN2A, in which most carriers have developed clinical symptoms. RET mutation detection should be routinely performed for families affected with MEN2A.
authors.affiliation: Department of Endocrinology and Metabolism, Huai'an Second People's Hospital, Huai'an, Jiangsu 223002, China. 13861587250@163.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xiao
authors.initials: X
authors.lastname: Zheng
authors.forename: Liang
authors.initials: L
authors.lastname: Cheng
authors.forename: Shaogang
authors.initials: S
authors.lastname: Ma
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D018276:Carcinoma, Medullary / Q000235:genetics; D018278:Carcinoma, Neuroendocrine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D013964:Thyroid Neoplasms / Q000235:genetics
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human