Abstract：
PURPOSE:To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. METHODS:A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. RESULTS:The overall diagnostic yield was 60% demonstrating the power of this approach. Interestingly, a missense mutation c.375C>G p.(Cys125Trp) in the CERKL gene was found in 18% of the patients in either a homozygous or compound heterozygous state. Data from Exome Aggregation Consortium (ExAC) Browser show that the CERKL c.375C>G p.(Cys125Trp) allele is enriched in the Finnish population and thus is a founder mutation. Furthermore, we report the clinical picture of 18 patients with mutations in the CERKL gene. CERKL mutations cause a macular-onset disease, in which symptoms first become apparent at the second decade. We also detected other novel founder mutations in the CERKL, EYS, RP1, ABCA4 and GUCY2D genes. CONCLUSION:Our report indicates that the first diagnostic test for Finnish patients with sporadic or autosomal recessive RD should be a targeted test for founder mutations in the CERKL, EYS, RP1, ABCA4 and GUCY2D genes. These results confirm the utility of NGS-based gene panels as a powerful method for mutation identification in RD, thus enabling improved genetic counselling for these families.
journal_name
Acta Ophthalmoljournal_title
Acta ophthalmologicaauthors
Avela K,Sankila EM,Seitsonen S,Kuuluvainen L,Barton S,Gillies S,Aittomäki Kdoi
10.1111/aos.13551subject
Has Abstractpub_date
2018-03-01 00:00:00pages
183-191issue
2eissn
1755-375Xissn
1755-3768journal_volume
96pub_type
杂志文章abstract：PURPOSE:To evaluate the efficacy of big-bubble (BB) technique in separating Dua's layer together with the Descemet's membrane endothelial (DE) graft and the effect of 7-day storage of the prepared tissues on the endothelial cells. METHOD:This is an experimental study in which 21 human corneo-scleral tissues unsuitable...
journal_title：Acta ophthalmologica
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abstract：PURPOSE:To report the indications and the outcomes of keratoplasties in children over four decades. METHODS:A retrospective cohort study of patients aged 16 years or younger who underwent keratoplasty in the Helsinki University Eye Hospital during 1968-2011. Diagnosis, preoperative status, age at the time of surgery, ...
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doi：10.1111/j.1755-3768.2008.01404.x
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pub_type： 杂志文章,随机对照试验
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pub_type： 杂志文章
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