[Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene].

The compound heterozygous variants of c.2389G>A and c.2345C>T of the WFS1 gene probably underlay the pathogenesis of hearing loss in the proband. Above finding has facilitated genetic counseling and prenatal diagnosis for this family.