Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).
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.
Amiel
Jeanne
J
Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France. amiel@necker.fr
Pelet
Anna
A
Trang
Ha
H
de Pontual
Loïc
L
Simonneau
Michel
M
Munnich
Arnold
A
Gaultier
Claude
C
Lyonnet
Stanislas
S
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
D018398:Homeodomain Proteins; D015513:Oncogene Proteins; D011518:Proto-Oncogene Proteins; C489494:TLX3 protein, human; C071250:TLX1 protein, human; D004247:DNA