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.
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Acknowledgements
We thank all the families who participated in this study. We are grateful to K Parker for technical assistance and to K Rogers and J Mulligan for their contribution to ascertainment work. This work was funded by Birth Defects Foundation Newlife and Action Medical Research.
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The URLs for data presented herein are as follows:
Ensembl, http://www.ensembl.org/Homo_sapiens/index.html
GeneCards, http://www.genecards.org/index.shtml
Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/omim/
UniGene, http://www.ncbi.nlm.nih.gov/sites/entrez?db=uniGene
Supplementary Information accompanies the paper on European Journal of Human Genetics website (http://www.nature.com/ejhg)
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Everett, K., Capon, F., Georgoula, C. et al. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur J Hum Genet 16, 1151–1154 (2008). https://doi.org/10.1038/ejhg.2008.86
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DOI: https://doi.org/10.1038/ejhg.2008.86
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