Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pendrin

the SLC26A4 gene encodes pendrin an anion tranporter which when mutatted causes autosomal recessive Pendered syndrome or deafness 4 with enlarged vestibular aqueduct

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Autosomal recessive deafness 4 with enlarged vestibular aqueduct
SLC26A4
Pendred syndrome
SLC26A4

References:

1.

Dentice M et. al. (2005) Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.

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2.

Baldwin CT et. al. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

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3.

Reardon W et. al. (1997) Pendred syndrome--100 years of underascertainment?

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4.

Everett LA et. al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

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5.

Li XC et. al. (1998) A mutation in PDS causes non-syndromic recessive deafness.

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6.

Van Hauwe P et. al. (1998) Two frequent missense mutations in Pendred syndrome.

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7.

Coyle B et. al. (1998) Molecular analysis of the PDS gene in Pendred syndrome.

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8.

Haila S et. al. (1998) Genomic structure of the human congenital chloride diarrhea (CLD) gene.

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9.

Kopp P et. al. (1999) Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.

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10.

Usami S et. al. (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

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11.

Scott DA et. al. (1999) The Pendred syndrome gene encodes a chloride-iodide transport protein.

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12.

Kraiem Z et. al. (1999) Sulfate transport is not impaired in pendred syndrome thyrocytes.

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13.

Everett LA et. al. (1999) Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear.

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14.

López-Bigas N et. al. (1999) Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

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15.

Masmoudi S et. al. (2000) Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

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16.

Bidart JM et. al. (2000) Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.

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17.

Scott DA et. al. (2000) Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

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18.

Adato A et. al. (2000) Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.

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19.

Fugazzola L et. al. (2000) Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

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20.

Everett LA et. al. (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

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21.

Royaux IE et. al. (2001) Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.

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22.

Campbell C et. al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

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23.

Taylor JP et. al. (2002) Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

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24.

Yoshida A et. al. (2002) Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells.

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25.

Rotman-Pikielny P et. al. (2002) Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.

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26.

Hulander M et. al. (2003) Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice.

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27.

Park HJ et. al. (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

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28.

Borck G et. al. (2003) Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.

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29.

Massa G et. al. (2003) Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.

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30.

Tekin M et. al. (2003) Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

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31.

Tsukamoto K et. al. (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

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32.

Napiontek U et. al. (2004) Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

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33.

Park HJ et. al. (2005) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

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34.

Pryor SP et. al. (2005) 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.

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35.

Albert S et. al. (2006) SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

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36.

Hu H et. al. (2007) Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

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37.

Yang T et. al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

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38.

Azaiez H et. al. (2007) Genotype-phenotype correlations for SLC26A4-related deafness.

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39.

Wang QJ et. al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

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40.

Palos F et. al. (2008) Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

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41.

Pera A et. al. (2008) 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.

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42.

Yoon JS et. al. (2008) Heterogeneity in the processing defect of SLC26A4 mutants.

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43.

Choi BY et. al. (2009) Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

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44.

Anwar S et. al. (2009) SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

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45.

Yang T et. al. (2009) Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

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46.

Dror AA et. al. (2010) Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.

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47.

Crovetto MA et. al. (2012) Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.

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Update: Sept. 26, 2018