title: 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.
authors.affiliation: Départment de Pédiatrie, l'Enfant INSERM U-12 Hôpital des Enfants-Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: A
authors.initials: A
authors.lastname: Bolino
authors.forename: A
authors.initials: A
authors.lastname: Pelet
authors.forename: L
authors.initials: L
authors.lastname: Abel
authors.forename: C
authors.initials: C
authors.lastname: Nihoul-Fékété
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
authors.forename: V
authors.initials: V
authors.lastname: Mok-Siu
authors.forename: H
authors.initials: H
authors.lastname: Kaariainen
authors.forename: G
authors.initials: G
authors.lastname: Martucciello
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: A
authors.initials: A
authors.lastname: Puliti
authors.forename: Y
authors.initials: Y
authors.lastname: Luo
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004276:DNA, Satellite / Q000235:genetics; D005190:Family; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D004276:DNA, Satellite; D009838:Oligodeoxyribonucleotides