2020
DOI: 10.21203/rs.3.rs-18814/v1
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Congenital Central Hypoventilation Syndrome in Neonates: Report of Fourteen New Cases and A Review of the Literature

Abstract: Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in PHOX2B gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. Our study aimed to expand current knowledge of clinical and genetic features of neonates with CCHS and provide data on the genotype-phenotype correlation.Methods: We made a retrospective analysis of 14 neonates carrying PHOX2B pathogenic variants from 2014 to 2019 and we reviewed previously pu… Show more

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“…Central hypoventilation is not usually associated with hypotonia. Most commonly it results from heterozygous polyalanine expansion mutations in PHOX2B [10], which may not be reliably detected in exome based testing. Specific testing for PHOX2B polyalanine expansion mutations in this patient was normal and no other variants in PHOX2B or other genes known to be associated with central hypoventilation were identified by WGS.…”
Section: P4htmmentioning
confidence: 99%
“…Central hypoventilation is not usually associated with hypotonia. Most commonly it results from heterozygous polyalanine expansion mutations in PHOX2B [10], which may not be reliably detected in exome based testing. Specific testing for PHOX2B polyalanine expansion mutations in this patient was normal and no other variants in PHOX2B or other genes known to be associated with central hypoventilation were identified by WGS.…”
Section: P4htmmentioning
confidence: 99%