A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Kristiina AvelaEeva-Marja SankilaSanna SeitsonenLiina KuuluvainenStephanie BartonStuart GilliesKristiina AittomäkiPublished in: Acta ophthalmologica (2017)
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.
Keyphrases
- genome wide
- bioinformatics analysis
- copy number
- genome wide identification
- dna methylation
- optical coherence tomography
- diabetic retinopathy
- late onset
- early onset
- cancer therapy
- intellectual disability
- genome wide analysis
- smoking cessation
- amyotrophic lateral sclerosis
- transcription factor
- human immunodeficiency virus
- muscular dystrophy
- optic nerve