Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pendrin

Das SLC26A4-Gen kodiert Pendrin einen Anionentransporter, der für die unter anderem auch für die Jodaufnahme in die Schilddrüse verantwortlich ist. Mutationen sind für das autosomal rezessive Pendred-Syndrom und die Schwerhörigkeit mit vergößertem vestubulärem Aquädukt verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Autosomal rezessive Schwerhörigkeit mit vergößertem vestubulärem Aquädukt
SLC26A4
Pendred-Syndrom
SLC26A4

Referenzen:

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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