Molecular Analysis of theretandGDNFGenes in a Family with Multiple Endocrine Neoplasia Type 2A and Hirschsprung Disease1

• DOI: 10.1210/jcem.83.9.5093
• Publication Date: 2014-01-08T17:03:29Z
• Authors: Salud Borrego; Charis Eng; Beatriz Sánchez; María-Eugenia Sáez; Elena Navarro; Guillermo Antiñolo
• Keywords: Hirschsprung's disease; Proto-Oncogene Proteins c-ret

The clinical association between multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung disease (HSCR) is infrequent. Germline mutations of the ret protooncogene are underlying cause MEN2 syndromes a proportion cases HSCR. In this report, we describe new kindred in which HSCR phenotypes associated with single C620S point mutation at one cysteine codons extracellular domain protooncogene. We also speculate about role silent exon same gene (A45A), present homozygous state patient both MEN2A To investigate contribution GDNF to phenotype observed kindred, scanned coding region MEN2/HSCR, but no was found.