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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/s00440-010-0297-4

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1432-1203

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Infantile hypertrophic pyloric stenosis evaluatio

Authors: Kate V Everett Barry A Chioza Christina Georgoula Ashley Reece R Mark Gardiner Eddie M K Chung
Publish Date: 2009/08/23
Volume: 126, Issue: 6, Pages: 819-831
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Abstract

Infantile hypertrophic pyloric stenosis IHPS is the most common inherited form of gastrointestinal obstruction in infancy with a striking male preponderance Infants present with vomiting due to gastric outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus Two loci specific to extended pedigrees displaying autosomal dominant inheritance have been identified A genome scan identified loci on chromosomes 11q14–q22 and Xq23–q24 which are predicted to be responsible for a subset of smaller families with IHPS demonstrating nonMendelian inheritance The two linked chromosomal regions both harbour functional candidate genes which are members of the canonical transient receptor potential TRPC family of ion channels Both TRPC5 Xq23–q24 and TRPC6 11q14–q22 have a potential role in smooth muscle control and hypertrophy Here we report suggestive evidence for a third locus on chromosome 3q12–q25 Z max = 27 p  0004 a region which harbours a third TRPC gene TRPC1 Fine mapping of all three genes using a tagSNP approach and resequencing identified a SNP in the promoter region of TRPC6 and a missense variant in exon 4 of TRPC6 which may be putative causal variantsThis work was supported by the Newlife Foundation and Action Medical Research We are very grateful to all the families that participated in this study We would like to thank Professors Prem Puri and Agostino Pierro Dr Sally Mitton and Mrs Cathy CordUdy as well as K Rogers N Johnson A Massoud and J Mulligan for their contribution to the family ascertainment effort We would like to thank K Parker for technical assistance and H Mitchison for critical assessment of the manuscript

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