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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Abstract

Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2–q21.2) in a patient with total colonic aganglionosis, and of a high–density genetic map of microsatellite DNA markers, we performed genetic linkage analysis in 15 non–syndromic long–segment and short–segment HSCR families. Multipoint linkage analysis indicated that the most likely location for a HSCR locus is between loci D10S208 and D10S196, suggesting that a dominant gene for HSCR maps to 10q11.2, a region to which other neural crest defects have been mapped.

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Lyonnet, S., Bolino, A., Pelet, A. et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 4, 346–350 (1993). https://doi.org/10.1038/ng0893-346

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