PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
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.
['Wang|Tzu-Chiang|TC|', 'Su|Yi-Ning|YN|', 'Lai|Ming-Chi|MC|']
D018398:Homeodomain Proteins D006801:Humans D007040:Hypoventilation D007231:Infant, Newborn D008297:Male D009154:Mutation D020182:Sleep Apnea, Central D014157:Transcription Factors
congenital central hypoventilation syndrome sleep hypoventilation Hirschsprung disease Ondine's curse