title: A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, UHBristol NHS Trust, St Michaels Hospital, Bristol, UK.
authors.forename: K J
authors.initials: KJ
authors.lastname: Low
authors.forename: A R
authors.initials: AR
authors.lastname: Turnbull
authors.forename: K R
authors.initials: KR
authors.lastname: Smith
authors.forename: T N
authors.initials: TN
authors.lastname: Hilliard
authors.forename: L J
authors.initials: LJ
authors.lastname: Hole
authors.forename: D J
authors.initials: DJ
authors.lastname: Meecham Jones
authors.forename: M M
authors.initials: MM
authors.lastname: Williams
authors.forename: A
authors.initials: A
authors.lastname: Donaldson
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D020182:Sleep Apnea, Central / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
keywords: CCHS (Congenital Central Hypoventilation Syndrome); Hirschsprung's disease; PHOX2B; neuroblastoma