title: RET codon 618 mutations in Saudi families with multiple endocrine neoplasia Type 2A and familial medullary thyroid carcinoma.
abstract: OBJECTIVE
  Certain diseases such as multiple endocrine neoplasia (MEN) 2A, MEN 2B, familial and sporadic medullary thyroid carcinoma (MTC) and renal dysgenesis are related to abnormalities of the RET protein. Our aim was to evaluate the frequency of RET mutation in 10 Saudi families with MEN type 2A and familial MTC.
  
  
  METHODS
  A cross-sectional prospective study of patients followed up at King Abdulaziz University Hospital and King Abdulaziz Medical City, Jeddah, between March 2001 and March 2011.
  
  
  METHODS
  Genomic DNA was isolated from peripheral blood leukocytes of all subjects by standard procedures. Exons 10, 11, 13, 14 and 16 of the RET proto-oncogene were analyzed by single-strand conformation polymorphism, direct DNA sequencing and/or restriction enzyme analysis.
  
  
  RESULTS
  We screened 79 subjects for the RET mutation. Of which 43 subjects had hereditary MTC were en.rolled in this study. MEN type 2A was identified in 25 subjects; MTC was diagnosed in all 25 subjects (100%), pheochromocytoma in 13 subjects (52%) and hyperparathyroidism in 4 subjects (16%). The most frequent genotype in patients with MEN 2A syndrome was a codon 618 mutation (46.6%), followed by a codon 634 mutation (44.2%). Among the 5 families with MEN 2A, 3 had a mutation at codon 634, whereas 2 had a mutation at codon 618.
  
  
  CONCLUSIONS
  The most frequent RET proto-oncogene mutation in our series was in codon 618 (exon 10).
authors.affiliation: Endocrine, King Abdulaziz University Hospital KAUH, PO Box 13042, Jeddah 21943, Saudi Arabia. faiza_qari@yahoo.com
authors.forename: Faiza
authors.initials: F
authors.lastname: Qari
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018276:Carcinoma, Medullary / Q000150:complications / Q000151:congenital* / Q000235:genetics; D002648:Child; D003062:Codon; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000150:complications / Q000235:genetics*; D009154:Mutation; D011446:Prospective Studies; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D012529:Saudi Arabia; D017422:Sequence Analysis, DNA; D013964:Thyroid Neoplasms / Q000150:complications / Q000235:genetics*; D055815:Young Adult
chemical_list: D003062:Codon; D005819:Genetic Markers; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human
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