Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

Usher-Syndrom 1D/F
CDH23
PCDH15
Familiäre und sporadische Hypophysenadenome
CDH23
Usher-Syndrom 1D
CDH23
Autosomal rezessive Schwerhörigkeit 12
ATP2B2
CDH23

Referenzen:

1.

Schultz JM et. al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

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2.

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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3.

Kazmierczak P et. al. (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.

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4.

Sotomayor M et. al. (2012) Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.

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5.

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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6.

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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7.

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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8.

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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9.

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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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.

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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12.

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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13.

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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14.

Noben-Trauth K et. al. (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

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15.

Hawkins RD et. al. (2004) The developmental genetics of auditory hair cells.

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16.

Wagatsuma M et. al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

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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.

Sotomayor M et. al. (2010) Structural determinants of cadherin-23 function in hearing and deafness.

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19.

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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20.

Bell CJ et. al. (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing.

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21.

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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22.

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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