Literature DB >> 7915329

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

M S Fewtrell1, P K Tam, A H Thomson, M Fitchett, J Currie, S M Huson, L M Mulligan.   

Abstract

We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.

Entities:  

Mesh：

Year:  1994        PMID： 7915329      PMCID： PMC1049807          DOI： 10.1136/jmg.31.4.325

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

1.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

3.  Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21).

Authors:  J J Holden; E A MacDonald
Journal:  Am J Med Genet       Date:  1985-02

4.  Hirschsprung's disease in a family with multiple endocrine neoplasia type 2.

Authors:  M Verdy; A M Weber; C C Roy; C L Morin; M Cadotte; P Brochu
Journal:  J Pediatr Gastroenterol Nutr       Date:  1982       Impact factor: 2.839

5.  Interstitial deletion of distal 13q associated with Hirschsprung's disease.

Authors:  M A Lamont; M Fitchett; N R Dennis
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

6.  Transgenic mice overexpressing the mouse homoeobox-containing gene Hox-1.4 exhibit abnormal gut development.

Authors:  D J Wolgemuth; R R Behringer; M P Mostoller; R L Brinster; R D Palmiter
Journal:  Nature       Date:  1989-02-02       Impact factor: 49.962

7.  [Neurocristopathy. The association of Hirschsprung's disease-ganglioneuroma with autonomic nervous system dysfunction in 2 children].

Authors:  G Levard; N Boige; C Vitoux; Y Aigrain; M Boureau; J Navarro
Journal:  Arch Fr Pediatr       Date:  1989-10

8.  Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome.

Authors:  N Clausen; P Andersson; N Tommerup
Journal:  Acta Paediatr Scand       Date:  1989-09

9.  Formation and malformation of the enteric nervous system in mice: an organ culture study.

Authors:  E Nishijima; J H Meijers; D Tibboel; T M Luider; M M Peters-van der Sanden; A W van der Kamp; J C Molenaar
Journal:  J Pediatr Surg       Date:  1990-06       Impact factor: 2.545

10.  Deletion of genes on chromosome 1 in endocrine neoplasia.

Authors:  C G Mathew; B A Smith; K Thorpe; Z Wong; N J Royle; A J Jeffreys; B A Ponder
Journal:  Nature       Date:  1987 Aug 6-12       Impact factor: 49.962
View more
  8 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Authors:  Paweł Stankiewicz; Shashikant Kulkarni; Avinash V Dharmadhikari; Srirangan Sampath; Samarth S Bhatt; Tamim H Shaikh; Zhilian Xia; Amber N Pursley; M Lance Cooper; Marwan Shinawi; Alex R Paciorkowski; Dorothy K Grange; Michael J Noetzel; Scott Saunders; Paul Simons; Marshall Summar; Brendan Lee; Fernando Scaglia; Florence Fellmann; Danielle Martinet; Jacques S Beckmann; Alexander Asamoah; Kathryn Platky; Susan Sparks; Ann S Martin; Suneeta Madan-Khetarpal; Jacqueline Hoover; Livija Medne; Carsten G Bonnemann; John B Moeschler; Stephanie E Vallee; Sumit Parikh; Polly Irwin; Victoria P Dalzell; Wendy E Smith; Valerie C Banks; David B Flannery; Carolyn M Lovell; Gary A Bellus; Kathryn Golden-Grant; Jerome L Gorski; Jennifer L Kussmann; Tracy L McGregor; Rizwan Hamid; Jean Pfotenhauer; Blake C Ballif; Chad A Shaw; Sung-Hae L Kang; Carlos A Bacino; Ankita Patel; Jill A Rosenfeld; Sau Wai Cheung; Lisa G Shaffer
Journal:  Hum Mutat       Date:  2011-11-02       Impact factor: 4.878

Review 3.  [Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Authors:  G Martucciello; O Luinetti; P Romano; U Magrini
Journal:  Pathologe       Date:  2007-03       Impact factor: 1.011

Review 4.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

Review 5.  The RET proto-oncogene: a challenge to our understanding of disease pathogenesis.

Authors:  T Kusafuka; P Puri
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

6.  SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.

Authors:  M H Sham; V C Lui; M Fu; B Chen; P K Tam
Journal:  Gut       Date:  2001-08       Impact factor: 23.059

Review 7.  Towards an evidence-based process for the clinical interpretation of copy number variation.

Authors:  E R Riggs; D M Church; K Hanson; V L Horner; E B Kaminsky; R M Kuhn; K E Wain; E S Williams; S Aradhya; H M Kearney; D H Ledbetter; S T South; E C Thorland; C L Martin
Journal:  Clin Genet       Date:  2011-12-13       Impact factor: 4.438

8.  Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Authors:  Francesca Lantieri; Stefania Gimelli; Chiara Viaggi; Elissavet Stathaki; Michela Malacarne; Giuseppe Santamaria; Alice Grossi; Manuela Mosconi; Frédérique Sloan-Béna; Alessio Pini Prato; Domenico Coviello; Isabella Ceccherini
Journal:  Orphanet J Rare Dis       Date:  2019-11-25       Impact factor: 4.123
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.