Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD.

ABSTRACT:

Background

Multiple acyl-coenzyme A (CoA) dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from mutations in the ETFDH gene. It is characterized by a wide spectrum of clinical symptoms, of which polycystic kidney disease is a specific phenotype of early-onset MADD. This study aims to broaden the genetic mutation spectrum of ETFDH gene. And we clarify the pathogenic mechanism of polycystic kidney caused by the loss of function of the ETFDH gene through in vitro experiments.

Results

Compound heterozygous variants in ETFDH (NM_004453: c.487 + 2 T > A, c.1395 T > G and c.1773-1774 del AT(in cis with c.1395 T > G) were identifed via trio-Whole Exome Sequencing (trio-WES) and confirmed pathogenic through Minigene Splice Assay and RT-PCR. This study, for

SUBMITTER: Zhang B 

PROVIDER: S-EPMC11905708 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature