SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Congenital deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 Biomarker disease BEFREE SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. 31415960 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE In this cohort study, 25% of infants with pathogenic combinations of GJB2 or SLC26A4 variants and 99% of infants with an m.1555A>G or m.1494C>T variant passed routine newborn hearing screening, indicating that concurrent screening provides a more comprehensive approach for management of congenital deafness and prevention of ototoxicity. 31564438 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE In this study, we aimed to demonstrate precise CRISPR/Cas9-mediated genome editing of the splicing mutation c.919-2A > G in intron 7 of the SLC26A4 gene, which is the second most common causative gene of congenital hearing loss. 30898719 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE The aim of this study was to determine whether mutations in SLC26A4 are a frequent cause of hereditary deafness in Brazilian patients. 29739340 2018
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. 30333321 2018
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. 26683941 2015
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043 2015
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness. 25649612 2015
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 Biomarker disease BEFREE Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as a manifestation of Pendred syndrome (PS) with an iodide organification defect or nonsyndromic enlarged vestibular aqueduct (NSEVA, DFNB4). 25358692 2014
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE Here, we report a novel synonymous mutation (c.1803G>A, p.Lys601Lys), that caused aberrant splicing in two Korean family members who were clinically considered to have DFNB4, along with congenital hearing loss and dilated vestibular aqueducts (DVA). 23246836 2013
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE SLC26A4 (PDS) mutations are common cause of congenital hearing loss in East Asia. 23523376 2013
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. 21704276 2011
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 Biomarker disease BEFREE Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter. 20834201 2011
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE Mutations of SLC26A4 are among the most prevalent causes of hereditary deafness. 21103348 2010
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE Our results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population. 18585793 2008
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter. 10602116 2000
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 GeneticVariation disease BEFREE Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with congenital hearing loss. 9618167 1998
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.100 Biomarker disease BEFREE These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. 9398842 1997