title: Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).
abstract: Congenital central hypoventilation syndrome (CCHS) is a rare condition for which segregation analyses have suggested genetic factors. The respiratory phenotype of Rnx knock-out mice together with the Rnx expression at the brainstem level prompted us to consider the RNX gene as a candidate for CCHS in human. The screening of the RNX gene in a series of 25 patients with CCHS did not reveal any significant nucleotide variation. We therefore conclude that RNX is not a major gene for CCHS in human.
authors.affiliation: Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France. amiel@necker.fr
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Anna
authors.initials: A
authors.lastname: Pelet
authors.forename: Ha
authors.initials: H
authors.lastname: Trang
authors.forename: Loïc
authors.initials: L
authors.lastname: de Pontual
authors.forename: Michel
authors.initials: M
authors.lastname: Simonneau
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Claude
authors.initials: C
authors.lastname: Gaultier
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D015513:Oncogene Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins; D020182:Sleep Apnea, Central / Q000151:congenital / Q000235:genetics*; D013577:Syndrome
chemical_list: D018398:Homeodomain Proteins; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; C489494:TLX3 protein, human; C071250:TLX1 protein, human; D004247:DNA