|| Pendred Syndrome (deafness)
|| Carrier of a Pendred syndrome (deafness) mutation
|| common in clinvar
rs111033212, also known as c.1003T>C, p.Phe335Leu or F335L, represents a rare mutation in the SLC26A4 gene on chromosome 7.
Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) to be pathogenic for Pendred Syndrome or a form of deafness, autosomal recessive 4, with enlarged vestibular aqueduct.
[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
[PMID 15689455] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
[PMID 17357124] Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
[PMID 18285825] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.