Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
J Clin Sleep Med
; 13(11): 1359-1362, 2017 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-28992836
ABSTRACT
ABSTRACT Pathogenic variants in Paired-Like Homeobox 2B (PHOX2B) gene cause congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by absent or reduced ventilatory response to hypoxia and hypercapnia. The focus of management in CCHS is optimizing ventilation. Thus far, no medication has proved effective in improving ventilation. Most CCHS cases are caused by polyalanine repeat expansion mutations. Non-polyalanine repeat expansion mutations are the cause in 8% of cases and result in a more severe clinical presentation. PHOX2B has 3 exons. Exon 3 of PHOX2B is the most common location for CCHS-causing mutations. Thus far, only 9 CCHS-causing mutations have been reported in exon 1, 8 of which were nonsense mutations. We report a child with CCHS who was found to have a novel heterozygous missense variant in exon 1; c.95A > T. Improvement in his apneic episodes was observed following treatment with carbamazepine.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
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Carbamazepina
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Proteínas de Homeodomínio
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Mutação de Sentido Incorreto
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Apneia do Sono Tipo Central
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Indutores do Citocromo P-450 CYP3A
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Hipoventilação
Limite:
Child, preschool
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Humans
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Infant
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Male
Idioma:
En
Revista:
J Clin Sleep Med
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Reino Unido