|| common in clinvar
|| Carrier of a mutation for Pendred syndrome (hearing loss)
|| Pendred syndrome (hearing loss)
rs111033220, also known as c.1229C>T, p.Thr410Met and T410M, represents a rare mutation in the SLC26A4 gene.
Inherited recessively, this variant is considered pathogenic for Pendred Syndrome, manifest as hearing loss and enlarged vestibular aqueduct syndrome.
[PMID 119323] Effect of mannitol on the traumatized spinal cord. Microangiography, blood flow patterns, and electrophysiology.
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 10700480] Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
[PMID 11919333] Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.