Bookshelf

Genes are listed alphabetically.

See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

In two families, persons with NSEVA had a heterozygous pathogenic variant in both SLC26A4 and FOXI1 [Yang et al 2007].

In two families, persons with NSEVA had a heterozygous pathogenic variant in both KCNJ10 and SLC26A4 [Yang et al 2009].

The proportion of PDS and NSEVA attributable to SLC26A4 varies by ascertainment, inheritance, and ethnicity. In affected individuals ascertained for inner ear malformations (specifically enlarged vestibular aqueduct with or without cochlear hypoplasia), the proportion of cases attributable to SLC26A4 is ~40%-50% in the European-American population and higher in multiplex families and Asian populations [Campbell et al 2001, Tsukamoto et al 2003, Berrettini et al 2005, Huang et al 2011, Chattaraj et al 2017, Rose et al 2017].

Single-exon and multiexon SLC26A4 deletions have been reported [Pera et al 2008].