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Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24

Kate V Everett1, Francesca Capon, Christina Georgoula

  • 1University College London Institute of Child Health, London, UK. kate.everett@ucl.ac.uk

European Journal of Human Genetics : EJHG
|May 15, 2008
PubMed

Insights

Infantile hypertrophic pyloric stenosis (IHPS) is a common infant gastrointestinal obstruction. Genetic analysis of an extended family mapped the IHPS disease locus to chromosome 16q24, suggesting potential locus heterogeneity.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited gastrointestinal obstruction in infants.
  • IHPS is a paradigm for sex-modified multifactorial inheritance, affecting males 4x more than females.
  • Autosomal dominant inheritance patterns have been observed in some IHPS pedigrees.

Purpose of the Study:

  • To identify the genetic locus for infantile hypertrophic pyloric stenosis (IHPS) in an extended family.
  • To investigate the genetic basis of IHPS, considering its complex inheritance patterns.

Main Methods:

  • Genome-wide scan using single-nucleotide polymorphism (SNP) markers.
  • Analysis of an extended IHPS family with eight affected individuals.
  • Lod score calculation to determine linkage.
  • Examination of fourteen additional multiplex pedigrees.

Main Results:

  • The IHPS disease locus was mapped to chromosome 16q24 with a LOD score of 3.7 in the extended family.
  • Fourteen other multiplex pedigrees did not show linkage to this region.
  • Evidence suggests genetic locus heterogeneity for IHPS.

Conclusions:

  • A novel locus for infantile hypertrophic pyloric stenosis (IHPS) has been identified at chromosome 16q24.
  • The findings indicate that IHPS likely has genetic locus heterogeneity.
  • Further research is needed to identify other IHPS loci and understand the genetic architecture of this condition.

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