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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Van Hauwe P et al. (1998) Two frequent missense mutations in Pendred syndrome.
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3. |
Coyle B et al. (1998) Molecular analysis of the PDS gene in Pendred syndrome.
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4. |
Haila S et al. (1998) Genomic structure of the human congenital chloride diarrhea (CLD) gene.
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5. |
Scott DA et al. (1999) The Pendred syndrome gene encodes a chloride-iodide transport protein.
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6. |
Kraiem Z et al. (1999) Sulfate transport is not impaired in pendred syndrome thyrocytes.
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7. |
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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8. |
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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9. |
Bidart JM et al. (2000) Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.
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10. |
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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11. |
Yoshida A et al. (2002) Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells.
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12. |
Rotman-Pikielny P et al. (2002) Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
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13. |
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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14. |
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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15. |
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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16. |
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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17. |
Azaiez H et al. (2007) Genotype-phenotype correlations for SLC26A4-related deafness.
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18. |
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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19. |
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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20. |
Yoon JS et al. (2008) Heterogeneity in the processing defect of SLC26A4 mutants.
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21. |
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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22. |
Anwar S et al. (2009) SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
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23. |
Dror AA et al. (2010) Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
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24. |
Crovetto MA et al. (2012) Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.
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25. |
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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26. |
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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27. |
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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28. |
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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29. |
Everett LA et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
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30. |
Li XC et al. (1998) A mutation in PDS causes non-syndromic recessive deafness.
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31. |
Usami S et al. (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
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32. |
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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33. |
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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34. |
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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35. |
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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36. |
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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37. |
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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38. |
Wang QJ et al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
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39. |
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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40. |
Park HJ et al. (2005) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
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41. |
Reardon W et al. (1997) Pendred syndrome--100 years of underascertainment?
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42. |
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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43. |
Masmoudi S et al. (2000) Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
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44. |
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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45. |
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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46. |
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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47. |
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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48. |
NCBI article
NCBI 5172
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49. |
OMIM.ORG article
Omim 605646
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50. |
Orphanet article
Orphanet ID 118821
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51. |
Wikipedia Artikel
Wikipedia DE (Pendrin)
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Update: 14. August 2020