title: PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
abstract: Congenital central hypoventilation syndrome (CCHS) is characterized by defective automatic regulation of breathing, mostly during sleep. The diagnostic criteria of CCHS include persistent sleep hypoventilation without primary cardiac, pulmonary disease or neuromuscular dysfunction, and no arousal response to hypoxemia and hypercapnia. Mutations in the PHOX2B gene have been indentified in 93-100% of patients with CCHS. We report a CCHS case with presentation of hypoventilation during sleep and Hirschsprung disease; moreover, a genetic study of the patient confirmed the PHOX2B gene mutation as polyanaline stretch.
authors.affiliation: Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, Taiwan.
authors.forename: Tzu-Chiang
authors.initials: TC
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.affiliation: Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, Taiwan. Electronic address: qazzaq@ksmail.seed.net.tw.
authors.forename: Ming-Chi
authors.initials: MC
authors.lastname: Lai
mesh_terms: D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D020182:Sleep Apnea, Central / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
keywords: Hirschsprung disease; Ondine's curse; congenital central hypoventilation syndrome; sleep hypoventilation