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PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
Pediatr Neonatol. 2014 Feb; 55(1):68-70.PN

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+Show Affiliations

Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, Taiwan.Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, Taiwan. Electronic address: qazzaq@ksmail.seed.net.tw.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23597545

Citation

Wang, Tzu-Chiang, et al. "PHOX2B Mutation in a Taiwanese Newborn With Congenital Central Hypoventilation Syndrome." Pediatrics and Neonatology, vol. 55, no. 1, 2014, pp. 68-70.
Wang TC, Su YN, Lai MC. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome. Pediatr Neonatol. 2014;55(1):68-70.
Wang, T. C., Su, Y. N., & Lai, M. C. (2014). PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome. Pediatrics and Neonatology, 55(1), 68-70. https://doi.org/10.1016/j.pedneo.2012.12.003
Wang TC, Su YN, Lai MC. PHOX2B Mutation in a Taiwanese Newborn With Congenital Central Hypoventilation Syndrome. Pediatr Neonatol. 2014;55(1):68-70. PubMed PMID: 23597545.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome. AU - Wang,Tzu-Chiang, AU - Su,Yi-Ning, AU - Lai,Ming-Chi, Y1 - 2013/01/20/ PY - 2011/05/11/received PY - 2012/05/22/revised PY - 2012/10/30/accepted PY - 2013/4/20/entrez PY - 2013/4/20/pubmed PY - 2015/4/22/medline KW - Hirschsprung disease KW - Ondine's curse KW - congenital central hypoventilation syndrome KW - sleep hypoventilation SP - 68 EP - 70 JF - Pediatrics and neonatology JO - Pediatr Neonatol VL - 55 IS - 1 N2 - 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. SN - 2212-1692 UR - https://www.unboundmedicine.com/medline/citation/23597545/PHOX2B_mutation_in_a_Taiwanese_newborn_with_congenital_central_hypoventilation_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1875-9572(12)00212-4 DB - PRIME DP - Unbound Medicine ER -