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 paired-like homeobox 2B (PHOX2B) gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. The aim of this study is 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 published neonatal-onset cases. Clinical and genetic data were analyzed. Moreover, genotype-phenotype correlation analysis was performed.

Results

We identified a total of 60 neonatal-onset CCHS cases (35 males and 25

SUBMITTER: Mei M 

PROVIDER: S-EPMC8107878 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature