A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non‐polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature...

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Bibliographic Details
Published in:Pediatric pulmonology 2014-10, Vol.49 (10), p.E140-E143
Main Authors: Low, K.J., Turnbull, A.R., Smith, K.R., Hilliard, T.N., Hole, L.J., Meecham Jones, D.J., Williams, M.M., Donaldson, A.
Format: Article
Language:English
Subjects:
Abortion, Habitual - genetics
CCHS (Congenital Central Hypoventilation Syndrome)
Female
Hirschsprung's disease
Homeodomain Proteins - genetics
Humans
Hypoventilation - congenital
Hypoventilation - genetics
Infant
Male
Mutation
neuroblastoma
Pedigree
PHOX2B
Pregnancy
Sleep Apnea, Central - genetics
Transcription Factors - genetics
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Summary:We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non‐polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140–E143. © 2014 Wiley Periodicals, Inc.
ISSN:8755-6863
1099-0496
DOI:10.1002/ppul.23051