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Gene Review:

CLRN1 - clarin 1

Homo sapiens

Synonyms: Clarin-1, RP61, USH3, USH3A, Usher syndrome type-3 protein

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Disease relevance of CLRN1

Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish Usher syndrome type III patients (USH3) with Finmajor/Finmajor (n = 55) and Finmajor/Finminor (n = 4) USH3A mutations [1].
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe retinal degeneration, and variably present vestibular dysfunction, assigned to 3q21-q25 [2].
Usher syndrome type 3 (USH3; MIM 276902) is an autosomal recessive disorder associated with progressive hearing loss and retinal degeneration [3].

High impact information on CLRN1

Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations [4].

References

Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Plantinga, R.F., Kleemola, L., Huygen, P.L., Joensuu, T., Sankila, E.M., Pennings, R.J., Cremers, C.W. Audiol. Neurootol. (2005) [Pubmed]
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Joensuu, T., Hämäläinen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Pakarinen, L., Lehesjoki, A.E., de la Chapelle, A., Sankila, E.M. Am. J. Hum. Genet. (2001) [Pubmed]
A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. Joensuu, T., Hämäläinen, R., Lehesjoki, A.E., de la Chapelle, A., Sankila, E.M. Genomics (2000) [Pubmed]
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millán, J.M., Lehesjoki, A.E., Flannery, J.G., Avraham, K.B., Pietrokovski, S., Sankila, E.M., Beckmann, J.S., Lancet, D. Eur. J. Hum. Genet. (2002) [Pubmed]

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