Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

Em, Sankila; Pakarinen, Leenamaija; Kääriäinen, Helena; Aittomäki, Kristiina; Karjalainen, S.; Sistonen, Pertti; A, de la Chapelle

doi:10.1093/hmg/4.1.93

Cited by 165 publications

(81 citation statements)

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“…Therefore, the possibility that a single gene underlies both USH2B and DFNB6 should be considered. Such a situation has already been shown for USH1B and DFNB2, 8,15,16 and may also apply to USH1C and DFNB18 4,18 or USH3 and DFNB15, 14,19 which colocalise. In the frame of this hypothesis, a more deleterious mutation for USH2B than for DFNB6 would be expected.…”

Section: Figure 1 Homozygosity By Descent In a Consanguineous Tunisiasupporting

confidence: 52%

“…12 Upon its elimination, given the possibility that a single locus might be responsible for different clinical forms of Usher syndrome, we investigated the possible involvement of the other known USH loci: USH1 (A to F) [2][3][4][5][6][7] and USH3. 14 No linkage could be detected between the disease and the polymorphic markers associated with these loci. We then tested the possibility of linkage with the DFNB (DFNB1 to DFNB15) loci, which underlie isolated forms of autosomal recessive deafness.…”

Section: Linkage Analysismentioning

confidence: 99%

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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

et al. 1999

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Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade of life, with congenital moderate to severe non-progressive hearing loss. This double sensory impairment is not accompanied by vestibular dysfunction. To date, only one Usher type II locus, USH2A, at chromosome band 1q41, has been defined. Here, we demonstrate by linkage analysis, that the gene responsible for Usher type II syndrome in a Tunisian consanguineous family maps to chromosome 3 at position p23-24.2, thus providing definitive evidence for the genetic heterogeneity of the syndrome. A maximum lod score of 4.3 was obtained with the polymorphic microsatellite markers corresponding to loci D3S1578, D3S3647 and D3S3658. This maps the gene underlying USH2B to a chromosomal region which overlaps the interval defined for the non-syndromic sensorineural recessive deafness DFNB6, raising the possibility that a single gene underlies both defects. However, the audiometric features in the patients affected by USH2B and DFNB6 are very different.

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Section: Figure 1 Homozygosity By Descent In a Consanguineous Tunisiasupporting

confidence: 52%

Section: Linkage Analysismentioning

confidence: 99%

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

et al. 1999

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“…While USH1 and USH2 map to at least 10 distinct loci , 3 -11 only one locus for USH3 has been reported so far. 12,13 Four of the USH1 and the USH2A genes have been identified. Mutations in the unconventional myosin MYO7A cause USH1B (MIM 276903 14 ) and in two unique cases also atypical USH phenotype similar to that of USH3.…”

Section: Introductionmentioning

confidence: 99%

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

et al. 2002

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Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of vestibular dysfunction. 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. Expression of Ush3a transcripts was localised by whole mount in situ hybridisation to cochlear hair cells and spiral ganglion cells. The full length USH3A transcript encodes clarin-1, a four-transmembrane-domain protein, which defines a novel vertebrate-specific family of three paralogues. Limited sequence homology to stargazin, a cerebellar synapse four-transmembrane-domain protein, suggests a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes.

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“…The sensorineural hearing loss is profound in type 1, and moderate in type 2 (Fishman et al 1983;Kimberling et al, 1989). A rare third type was also described with progressive hearing loss (Sankila et al, 1995). Seeliger et al found that type 1 patients and control subjects had almost identical 33-Hz flicker implicit times, and the same was true for type 2 and classical retinitis pigmentosa patients (Seeliger et al, 2001).…”

Section: Usher Syndromementioning

confidence: 97%