Usher Syndrome - Genes Associated With Usher Syndrome

Genes Associated With Usher Syndrome

Table 1: Genes linked to Usher syndrome
Type Freq Gene locus Gene Protein Function Size (AA) UniProt OMIM
USH1B 39–55% 11q13.5 MYO7A Myosin VIIA Motor protein 2215 Q13402 276900
USH1C 6–7% 11p15.1-p14 USH1C Harmonin PDZ-domain protein 552 Q9Y6N9 276904
USH1D 19–35% 10q21-q22 CDH23 Cadherin 23 Cell adhesion 3354 Q9H251 601067
USH1E rare 21q21 ? ? ? ? ? 602097
USH1F 11–19% 10q11.2-q21 PCDH15 Protocadherin 15 Cell adhesion 1955 Q96QU1 602083
USH1G 7% 17q24-q25 USH1G SANS Scaffold protein 461 Q495M9 606943
USH2A 80% 1q41 USH2A Usherin Transmembrane linkage 5202 O75445 276901
USH2C 15% 5q14.3-q21.1 GPR98 VLGR1b Very large GPCR 6307 Q8WXG9 605472
USH2D 5% 9q32-q34 DFNB31 Whirlin PDZ-domain protein 907 Q9P202 611383
USH3A 100% 3q21-q25 CLRN1 Clarin-1 Synaptic shaping 232 P58418 276902

Several genes have been associated with Usher syndrome using linkage analysis of patient families (Table 1) and DNA sequencing of the identified loci. A mutation in any one of these genes is likely to result in Usher syndrome. The clinical subtypes Usher I and II are associated with mutations in any one of six (USH1B-G) and three (USH2A,C-D) genes, respectively, whereas only one gene, USH3A, has been linked to Usher III so far. Two other genes, USH1A and USH2B, were initially associated with Usher syndrome, but USH2B has not been verified and USH1A was incorrectly determined and does not exist. Research in this area is ongoing.

Using interaction analysis techniques it could be shown that the identified gene products interact with one another in one or more larger protein complexes. If one of the components is missing, this protein complex cannot fulfill its function in the living cell and it probably comes to the degeneration the same. The function of this protein complex has been suggested to participate in the signal transduction or in the cell adhesion of sensory cells.

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