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 re...
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Elsevier
2014-02-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957212002124 |
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| author | Tzu-Chiang Wang Yi-Ning Su Ming-Chi Lai |
| author_facet | Tzu-Chiang Wang Yi-Ning Su Ming-Chi Lai |
| author_sort | Tzu-Chiang Wang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1f8cf047cd914dd3803783e5da66c80e |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2014-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-1f8cf047cd914dd3803783e5da66c80e2025-08-20T02:10:57ZengElsevierPediatrics and Neonatology1875-95722014-02-01551687010.1016/j.pedneo.2012.12.003PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation SyndromeTzu-Chiang Wang0Yi-Ning Su1Ming-Chi Lai2Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, TaiwanDepartment of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, TaiwanDepartment of Pediatrics, Chi-Mei Foundation Hospital, Tainan, TaiwanCongenital 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.http://www.sciencedirect.com/science/article/pii/S1875957212002124congenital central hypoventilation syndromeHirschsprung diseaseOndine's cursesleep hypoventilation |
| spellingShingle | Tzu-Chiang Wang Yi-Ning Su Ming-Chi Lai PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome Pediatrics and Neonatology congenital central hypoventilation syndrome Hirschsprung disease Ondine's curse sleep hypoventilation |
| title | PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome |
| title_full | PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome |
| title_fullStr | PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome |
| title_full_unstemmed | PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome |
| title_short | PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome |
| title_sort | phox2b mutation in a taiwanese newborn with congenital central hypoventilation syndrome |
| topic | congenital central hypoventilation syndrome Hirschsprung disease Ondine's curse sleep hypoventilation |
| url | http://www.sciencedirect.com/science/article/pii/S1875957212002124 |
| work_keys_str_mv | AT tzuchiangwang phox2bmutationinataiwanesenewbornwithcongenitalcentralhypoventilationsyndrome AT yiningsu phox2bmutationinataiwanesenewbornwithcongenitalcentralhypoventilationsyndrome AT mingchilai phox2bmutationinataiwanesenewbornwithcongenitalcentralhypoventilationsyndrome |