Congenital Central Hypoventilation Syndrome in Israel-Novel Findings from a New National Center.

ABSTRACT:

Background

Congenital central hypoventilation syndrome (CCHS) is a rare autosomal-dominant disorder of the autonomic nervous system that results from mutations in the PHOX2B gene. A national CCHS center was founded in Israel in 2018. Unique new findings were observed.

Methods

All 27 CCHS patients in Israel were contacted and followed. Novel findings were observed.

Results

The prevalence of new CCHS cases was almost twice higher compared to other countries. The most common mutations in our cohort were polyalanine repeat mutations (PARM) 20/25, 20/26, 20/27 (combined = 85% of cases). Two patients showed unique recessive inheritance while their heterozygotes family members were asymptomatic. A right-sided cardio-neuromodulation was performed on an eight-year-old b

SUBMITTER: Sivan Y 

PROVIDER: S-EPMC10299612 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature