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A case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat PHOX2B mutation
Author(s) -
Low K.J.,
Turnbull A.R.,
Smith K.R.,
Hilliard T.N.,
Hole L.J.,
Meecham Jones D.J.,
Williams M.M.,
Donaldson A.
Publication year - 2014
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.23051
Subject(s) - congenital central hypoventilation syndrome , medicine , mutation , genetics , family history , miscarriage , hypoventilation , pediatrics , pregnancy , biology , gene , respiratory system
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.