Cadherin-23
Das CDH23-Gen kodiert Cadherin, ein Calcium-abhängiges interzelluläres Adhäsionsprotein. Allelische Mutationen dieses Gens sind verantwortlich für Usher-Syndrom 1D, autosomal rezessive Schwerhörigkeit DFNB12 und familiäre Epiphysenadenome.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
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2. |
Bell CJ et al. (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing.
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3. |
Bahloul A et al. (2010) Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.
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4. |
Sotomayor M et al. (2010) Structural determinants of cadherin-23 function in hearing and deafness.
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5. |
Hawkins RD et al. (2004) The developmental genetics of auditory hair cells.
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6. |
Noben-Trauth K et al. (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.
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7. |
de Brouwer AP et al. (2003) Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
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8. |
Boëda B et al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.
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9. |
Siemens J et al. (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
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10. |
Astuto LM et al. (2002) CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
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11. |
von Brederlow B et al. (2002) Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
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12. |
Marres HA et al. (1989) Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.
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13. |
Bolz H et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
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14. |
Di Palma F et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.
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15. |
Zhang Q et al. (2017) Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
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16. |
Schultz JM et al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
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17. |
Schwander M et al. (2009) A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.
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18. |
Wagatsuma M et al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
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19. |
Bork JM et al. (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
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20. |
Sotomayor M et al. (2012) Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
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21. |
Kazmierczak P et al. (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
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22. |
Schultz JM et al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
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23. |
NCBI article
NCBI 64072
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24. |
OMIM.ORG article
Omim 605516
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25. |
Orphanet article
Orphanet ID 119281
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Update: 14. August 2020