Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.

ABSTRACT:

Background

Sudden infant death syndrome (SIDS) is still one of the leading causes of postnatal infant death in developed countries. The occurrence of SIDS is described by a multifactorial etiology that involves the respiratory control system including chemoreception. It is still unclear whether genetic variants in genes involved in respiratory chemoreception might play a role in SIDS.

Methods

The exome data of 155 SIDS cases were screened for variants within 11 genes described in chemoreception. Pathogenicity of variants was assigned based on the assessment of variant types and in silico protein predictions according to the current recommendations of the American College of Medical Genetics and Genomics.

Results

Potential pathogenic variants in genes encoding proteins

SUBMITTER: Neubauer J 

PROVIDER: S-EPMC9586864 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature