Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease

Attie, T; Eng, C; Mulligan, L M

Title: Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease

Full Record
Other Related Research

Abstract

Hirschsprung`s disease (HSCR) is a frequent congenital malformation ascribed to the absence of autonomic ganglion cells in the terminal hindgut. Recently, we have identified mutations in the RET proto-oncogene in HSCR families. Mutations of the RET gene have also been reported in multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC). While RET mutations in HSCR are scattered on the whole coding sequence, MEN 2A and FMTC mutations are clustered in 5 cystein codons of exons 10 and 11. Here, we report on HSCR families carrying mutations in exon 10 of the RET gene, one of them involving a cystein codon. Germ-line mutations in exon 10 of the RET gene may contribute to either an early development defect (HSCR) or inherited predisposition to cancer (MEN 2A and FMTC), probable depending on the nature and location of the mutation. These data also suggest that HSCR patients with mutations in exon 10 might subsequently prove to be at risk for MEN 2A or FMTC since several MEN 2A/HSCR associations have been reported.

Authors:

Attie, T; Eng, C; Mulligan, L M ^[1]

Hospital des Enfants-Malades, Paris (France); and others

Publication Date:: Thu Sep 01 00:00:00 EDT 1994

OSTI Identifier:: 134156

Report Number(s):: CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0892

Resource Type:: Journal Article

Journal Name:: American Journal of Human Genetics

Additional Journal Information:: Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994

Country of Publication:: United States

Language:: English

Subject:: 55 BIOLOGY AND MEDICINE, BASIC STUDIES; ONCOGENES; GENE MUTATIONS; HEREDITARY DISEASES; RISK ASSESSMENT; PATIENTS; CONGENITAL MALFORMATIONS; NEOPLASMS; ENDOCRINE DISEASES; CODONS

Citation Formats


                    Attie, T, Eng, C, and Mulligan, L M. Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease.  United States: N. p., 1994. 
        Web.

Copy to clipboard


                    Attie, T, Eng, C, & Mulligan, L M. Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease.  United States.

Copy to clipboard


                    Attie, T, Eng, C, and Mulligan, L M. 1994.  
        "Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease".  United States.

Copy to clipboard


                    
@article{osti_134156,

  title        = {Mutations in exon 10 of the RET proto-oncogene in Hirschsprung`s disease},

  author       = {Attie, T and Eng, C and Mulligan, L M},

  abstractNote = {Hirschsprung`s disease (HSCR) is a frequent congenital malformation ascribed to the absence of autonomic ganglion cells in the terminal hindgut. Recently, we have identified mutations in the RET proto-oncogene in HSCR families. Mutations of the RET gene have also been reported in multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC). While RET mutations in HSCR are scattered on the whole coding sequence, MEN 2A and FMTC mutations are clustered in 5 cystein codons of exons 10 and 11. Here, we report on HSCR families carrying mutations in exon 10 of the RET gene, one of them involving a cystein codon. Germ-line mutations in exon 10 of the RET gene may contribute to either an early development defect (HSCR) or inherited predisposition to cancer (MEN 2A and FMTC), probable depending on the nature and location of the mutation. These data also suggest that HSCR patients with mutations in exon 10 might subsequently prove to be at risk for MEN 2A or FMTC since several MEN 2A/HSCR associations have been reported.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/134156},
  journal      = {American Journal of Human Genetics},
number       = Suppl.3,

  volume       = 55,

  place        = {United States},

  year         = {Thu Sep 01 00:00:00 EDT 1994},

  month        = {Thu Sep 01 00:00:00 EDT 1994}

}

Copy to clipboard

Journal Article:

Other availability

Find in Google Scholar

Search WorldCat to find libraries that may hold this journal

Save / Share:

Export Metadata

Save to My Library

Similar records in OSTI.GOV collections:

RET mutations in MEN 2 associated diseases

Journal Article Hofstra, R; Stelwagen, T; Stulp, R - American Journal of Human Genetics

Multiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct dominantly inherited cancer syndromes namely MEN 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC). Germline (point) mutations of the RET proto-oncogene have been reported to occur in all these syndromes. In MEN 2A and FMTC patients the mutations occurred within codons specifying cysteine residues in the transition of the RET extracellular and transmembrane domains, while in MEN 2B patients we could detect a single RET mutation in the tyrosine kinase domain in all patients. Also in patients suffering from Hirschsprung`s disease (HSCR), mutations in the RET gene havemore »« less
A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families

Journal Article Marsh, D; Andrew, S; Richardson, A - Genomics

Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance. Following the identification of mutations in the RET proto-oncogene that segregate with the disease phenotype in MEN2A, MEN2B, and FMTC, genetic screening of individuals with mutations in RET may be performed. The authors have employed restriction endonuclease digestion of polymerase chain reaction products as an alternative to sequence analysis for rapid identification of mutant gene carriers in families in which MEN2A and RMTC are segregating. Twenty-one Australasian MEN2A and FMTC families have been screened for mutations in a cysteine-richmore »« less
https://doi.org/10.1006/geno.1994.1526
Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas

Journal Article Zedenius, J; Svensson, A; Baeckdahl, M; ... - Journal of Clinical Endocrinology and Metabolism

The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently linked to germline mutations in the RET proto-oncogene, altering one of five cysteine residues in exon 10 or 11 (MEN 2A), or substituting a methionine for a threonine at codon 918 in exon 16 (MEN 2B). The latter mutation also occurs somatically in some sporadic medullary thyroid carcinomas (MTC), and has in a previous study been correlated with a less favorable clinical outcome. In the present study, 46 MTCs were selected for investigation of the codon 918 mutation. The mutation was found in 29more »« less
https://doi.org/10.1210/jc.80.10.3088
Spectrum of mutations of the ret proto-oncogene in Hirschsprung`s disease

Journal Article Lyonnet, S; Attie, T; Pelet, A - American Journal of Human Genetics

Hirschsprung`s disease (HSCR) is a frequent congenital malformation (1 in 5,000 live births) ascribed to the absence of autonomic ganglia cells in the terminal hindgut. HSCR is a neurocristopathie resulting in intestinal obstruction in neonates and in milder phenotypes in adults. Recently, we have mapped a dominant gene for familial HSCR to chromosome 10q11.2 and identified mutations of the RET proto-oncogene in HSCR families. Studying a large number of HSCR patients by DGGE analysis of the RET coding sequence we observed: (a) various RET mutations in our series of 30 HSCR families, (b) de novo mutations in several sporadic HSCRmore »« less
Sporadic Hirschsprung`s disease due to a novel nonsense mutation in the RET protooncogene

Journal Article Carlson, K; Donis-Keller, H; Langer, J - American Journal of Human Genetics

Hirschsprung`s disease (HSCR, aganglionic megacolon) is characterized by a lack of ganglion cells along variable lengths of the hindgut. This is most likely due to a failure of the progenitor cells (that are destined to become the ganglion cells of the submucosal and myenteric plexuses) to complete their distal migration in the colon. Recently, mutations in the RET protoocogene have been reported in association with HSCR. We report a novel nonsense mutation resulting in a severely truncated protein. Germline DNA from a panel of 6 HSCR patients was analyzed by SSCP for 20 exons of RET. Eight exons were alsomore »« less

Similar Records