1. ¹University College London Institute of Child Health, London, UK
2. ²The Whittington Hospital NHS Trust, London, UK
3. ³Our Lady's Hospital for Sick Children, Dublin, Ireland

Correspondence: Dr KV Everett, General and Adolescent Paediatric Unit, Centre for Human Molecular Genetics, UCL Institute of Child Health, the Rayne Building, 5 University Street, London WC1E 6JJ, UK. Tel: +44 0 207 6796124; Fax: +44 0 207 6796103; E-mail: kate.everett@ucl.ac.uk

⁴Present affiliation: King's College School of Medicine, London, UK

Received 10 January 2008; Revised 27 March 2008; Accepted 28 March 2008; Published online 14 May 2008.

Abstract

Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy. The disease is considered a paradigm for the sex-modified model of multifactorial inheritance and affects males four times more frequently than females. However, extended pedigrees consistent with autosomal dominant inheritance have been documented. We have analysed data from an extended IHPS family including eight affected individuals (five males and three females) and mapped the disease locus to chromosome 16q24 (LOD score=3.7) through an SNP-based genome wide scan. Fourteen additional multiplex pedigrees did not show evidence of linkage to this region, indicating locus heterogeneity.