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Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)
Author(s) -
Amiel Jeanne,
Pelet Anna,
Trang Ha,
de Pontual Loïc,
Simonneau Michel,
Munnich Arnold,
Gaultier Claude,
Lyonnet Stanislas
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10934
Subject(s) - congenital central hypoventilation syndrome , genetics , gene , brainstem , biology , hypoventilation , phenotype , medicine , respiratory system , neuroscience
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. © 2002 Wiley‐Liss, Inc.