A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.J Clin Sleep Med. 2014 Mar 15; 10(3):327-9.JC
Abstract
Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was first demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classified as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype.
CITATION
Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
24634632
Citation
Amimoto, Yuko, et al. "A Case of Congenital Central Hypoventilation Syndrome With a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea." Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine, vol. 10, no. 3, 2014, pp. 327-9.
Amimoto Y, Okada K, Nakano H, et al. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea. J Clin Sleep Med. 2014;10(3):327-9.
Amimoto, Y., Okada, K., Nakano, H., Sasaki, A., Hayasaka, K., & Odajima, H. (2014). A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea. Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine, 10(3), 327-9. https://doi.org/10.5664/jcsm.3542
Amimoto Y, et al. A Case of Congenital Central Hypoventilation Syndrome With a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea. J Clin Sleep Med. 2014 Mar 15;10(3):327-9. PubMed PMID: 24634632.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
AU - Amimoto,Yuko,
AU - Okada,Kenji,
AU - Nakano,Hiroshi,
AU - Sasaki,Ayako,
AU - Hayasaka,Kiyoshi,
AU - Odajima,Hiroshi,
Y1 - 2014/03/15/
PY - 2014/3/18/entrez
PY - 2014/3/19/pubmed
PY - 2014/12/15/medline
KW - Central sleep apnea
KW - PHOX2B
KW - congenital central hypoventilation syndrome (CCHS)
SP - 327
EP - 9
JF - Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
JO - J Clin Sleep Med
VL - 10
IS - 3
N2 - UNLABELLED: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was first demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classified as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype. CITATION: Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
SN - 1550-9397
UR - https://www.unboundmedicine.com/medline/citation/24634632/A_case_of_congenital_central_hypoventilation_syndrome_with_a_novel_mutation_of_the_PHOX2B_gene_presenting_as_central_sleep_apnea_
DB - PRIME
DP - Unbound Medicine
ER -
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