Mapping of a Gene for Severe Pediatric Gastroesophageal Reflux to Chromosome 13q14

Hu, Fang; Preston, Robert A.; Post, J. Christopher; White, Gordon J.; Kikuchi, L. W.; Wang, Xue; Leal, Suzanne M.; Levenstien, Mark A; Ott, Jürg; Self, T. W.; Allen, Gregory C.; Stiffler, Richelle; McGraw, Corey; Pulsifer-Anderson, E. A.; Ehrlich, Garth D.

doi:10.1001/jama.284.3.325

Cited by 107 publications

(65 citation statements)

References 26 publications

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“…A genetic locus for gastro-esophageal reflux associated with Barrett esophagus has already been mapped on chromosome 13 but the gene has not been identified yet. 33 Other familial cases of CIIP should now be examined for linkage to chromosome 8q23 -q24, as well as families with Barrett esophagus and impairment of the intestinal propulsion to further narrow the candidate region and to confirm a possible relationship between CIIP and other diseases or conditions (particularly Barrett esophagus). CIIP and Barrett esophagus are serious pathological conditions of the gastrointestinal tract.…”

Section: Discussionmentioning

confidence: 99%

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

et al. 2007

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Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare and severe clinical syndrome characterized by symptoms and signs of intestinal occlusion, in the absence of any mechanical obstruction of the gut lumen. In the attempt to identify the genetic basis of CIIP, we analyzed a Turkish pedigree with a high degree of consanguinity in which three siblings presented with a syndromic form of CIIP. All affected family members were characterized by recurrent, self-limiting subocclusive episodes, long-segment Barrett esophagus, and a variety of minor cardiac valve or septal defects. In some patients full-thickness intestinal biopsy samples were obtained and tissues were processed for immunohistochemistry using antibodies to different markers of the intestinal neuromuscular tract. Full-thickness biopsies of the gut wall showed abnormalities of both the neural and muscular components suggesting an underlying intestinal neuromyopathy. Blood samples were collected for DNA extraction from each available family member and DNAs were genotyped using 382 microsatellites spanning the entire genome with the aim to take advantage of the homozygosity mapping approach. Linkage analysis identified a new syndromic locus on chromosome 8q23-q24 (multipoint LOD score ¼ 5.01). Our data strongly support the presence of a new genetic locus associated with CIIP, long-segment Barrett esophagus, and cardiac involvement on chromosome 8.

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Section: Discussionmentioning

confidence: 99%

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

et al. 2007

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“…In a series of five families with severe pediatric GER an autosomal dominant form of inheritance associated with a chromosome 13q14 defect has been described. 12 Diagnostic approaches History and physical examination. There are no reports comparing history and physical examination to diagnostic tests.…”

Section: Introductionmentioning

confidence: 99%

GERD or not GERD: the fussy infant

Bhatia

Parish

2009

J Perinatol

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“…Genes in question have been localized to chromosomes 9 and 13. A locus on chromosome 13q, between microsatellite D13S171 and D13S263, has been linked with severe GERD in five multiple-affected families [25]. This could not be confirmed in another five families, probably due to genetic heterogeneity of GERD and different clinical presentation of patients [26].…”

Section: Prevalence Environmental and Genetic Factorsmentioning

confidence: 87%

Gastroesophageal Reflux

Vandenplas¹

2015

Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Mapping of a Gene for Severe Pediatric Gastroesophageal Reflux to Chromosome 13q14

Abstract: These data suggest that a gene for severe pediatric GER maps to chromosome 13q14. JAMA. 2000;284:325-334

Cited by 107 publications

References 26 publications

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

GERD or not GERD: the fussy infant

Gastroesophageal Reflux

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