Linkage of Monogenic Infantile Hypertrophic Pyloric Stenosis to Chromosome 16p12-p13 and Evidence for Genetic Heterogeneity

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2006 Jul 11

PMID 16826529

Citations 11

Authors

Francesca Capon

Ashley Reece

Rathi Ravindrarajah

Eddie Chung

Affiliations

Soon will be listed here.

Abstract

Infantile hypertrophic pyloric stenosis (IHPS) is the most common form of bowel obstruction in infancy. The disease affects males four times more often than females and is considered a paradigm for the sex-modified model of multifactorial inheritance. However, pedigrees consistent with autosomal dominant inheritance have also been documented. We analyzed a 3-generation family with IHPS including 10 affected individuals (5 males and 5 females) and mapped the underlying disease locus to chromosome 16p12-p13 (LOD score 3.23) by using a single-nucleotide polymorphism-based genomewide scan. The analysis of 10 additional multiplex pedigrees yielded negative or nonsignificant LOD scores, indicating the presence of locus heterogeneity. Sequence analysis of candidate genes from the chromosome 16 disease interval excluded the presence of pathogenic mutations in the GRIN2A and MYH11 genes.

Citing Articles

Hypertrophic Pyloric Stenosis in Dizygotic Twins: Case Report.

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A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

Everett K, Ataliotis P, Chioza B, Shaw-Smith C, Chung E Pediatr Res. 2016; 81(4):632-638.

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Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.

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Genetic contribution to motility disorders of the upper gastrointestinal tract.

Sarnelli G, DAlessandro A, Pesce M, Palumbo I, Cuomo R World J Gastrointest Pathophysiol. 2013; 4(4):65-73.

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Infantile hypertrophic pyloric stenosis in twins.

Kundal V, Gajdhar M, Shukla A, Kundal R BMJ Case Rep. 2013; 2013.

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