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PHOX2B gene mutation in a patient with late‐onset central hypoventilation
Author(s) -
Trang Ha,
Laudier Béatrice,
Trochet Delphine,
Munnich Arnold,
Lyonnet Stanislas,
Gaultier Claude,
Amiel Jeanne
Publication year - 2004
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.20074
Subject(s) - congenital central hypoventilation syndrome , hypoventilation , medicine , etiology , mutation , genetics , pediatrics , gene , biology , respiratory system
Abstract Congenital central hypoventilation syndrome, which is related to abnormal autonomic control of breathing and typically manifests at birth, was recently associated with PHOX2B gene mutations. In contrast, central hypoventilation with later onset constitutes a poorly defined group of unknown etiology. Here, we report on the identification of a de novo heterozygous PHOX2B mutation in a patient with central hypoventilation manifesting in childhood. This finding suggests that some of these cases may be genetically determined and allelic to congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004; 38:349–351. © 2004 Wiley‐Liss, Inc.