A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate.
10.3346/jkms.2010.25.8.1237
- Author:
Kyoung Ah KWON
1
;
Su Eun PARK
;
Shin Yun BYUN
;
Shine Young KIM
;
Sang Hyoun HWANG
Author Information
1. Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea. psepse@naver.com
- Publication Type:Case Report
- Keywords:
Congenital Central Hypoventilation Syndrome;
PHOX2B Gene
- MeSH:
Alleles;
Asian Continental Ancestry Group/*genetics;
Genotype;
Homeodomain Proteins/*genetics;
Humans;
Hypoventilation/congenital/*genetics;
Infant, Newborn;
Male;
Mutation;
Peptides/genetics;
Republic of Korea;
Sequence Analysis, DNA;
Transcription Factors/*genetics;
Ventilators, Mechanical
- From:Journal of Korean Medical Science
2010;25(8):1237-1240
- CountryRepublic of Korea
- Language:English
-
Abstract:
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.
