Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.
نویسندگان
چکیده
This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.
منابع مشابه
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
RATIONALE Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases. OBJECTIVES To characterize CCHS-associa...
متن کاملGermline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Congenital central hypoventilation syndrome (CCHS), a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation, is caused by mutations in the PHOX2B gene. Most mutations occur de novo, but recent evidence suggests that up to 25% are inherited from asymptomatic parents with somatic mosaicism for these mutations. However, to date, germline mosaicism has not been reporte...
متن کاملLate-onset central hypoventilation syndrome: a family genetic study.
Congenital central hypoventilation syndrome is a rare disorder characterised by chronic alveolar hypoventilation, which becomes more pronounced during sleep and may be associated with neurocristopathies, such as Hirchsprung's disease. A mutation in the PHOX2B gene has recently been identified. In a family of both parents and five offspring, detailed clinical assessment, pulmonary function testi...
متن کاملLETTER TO JMG PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, G M Casiraghi, M R Cilio, R Hennekam, R Hofstra, J G Schöber, R Ravazzolo, G Ottonello, I Ceccherini . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملA triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Down syndrome (DS) is recognized by characteristic facial features, intellectual disability, and an increased risk for cardiac malformations and duodenal atresia. Recently, Hirschsprung disease (HSCR), or congenital aganglionic megacolon, has been seen more often among patients with DS. Given the systemic nature of DS-related features, it is natural to attribute neonatal complications to the ch...
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عنوان ژورنال:
- Oman medical journal
دوره 26 5 شماره
صفحات -
تاریخ انتشار 2011