PHOX2B gene mutation in a patient with late‐onset central hypoventilation

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....

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Bibliographic Details
Published in:Pediatric pulmonology 2004-10, Vol.38 (4), p.349-351
Main Authors: Trang, Ha, Laudier, Béatrice, Trochet, Delphine, Munnich, Arnold, Lyonnet, Stanislas, Gaultier, Claude, Amiel, Jeanne
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
central hypoventilation
Homeodomain Proteins - genetics
Humans
Infant
late‐onset
Male
Medical sciences
Mutation
PHOX2B
Pneumology
Sequence Homology, Nucleic Acid
Sleep Apnea, Central - genetics
Sleep Apnea, Central - pathology
Transcription Factors - genetics
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Summary: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.
ISSN:8755-6863
1099-0496
DOI:10.1002/ppul.20074