SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

Janet R ChaoParna ChattarajTina MunjalKeiji HondaKelly A KingChristopher K ZalewskiWade W ChienCarmen C BrewerAndrew J Griffith

Published in: BMC medical genetics (2019)

CEVA, acting as a likely pathogenic recessive allele, is associated with a less severe phenotype than alleles with a mutation affecting the coding regions or splice sites of SLC26A4. CEVA may act as a genetic modifier in patients with EVA caused by other factors.

Keyphrases

genome wide
early onset
intellectual disability
copy number
muscular dystrophy
autism spectrum disorder
drug induced
hearing loss