Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

@article{BandahRozenfeld2010HomozygosityMR,
  title={Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.},
  author={Dikla Bandah-Rozenfeld and Liliana Mizrahi-Meissonnier and Chen Farhy and Alexey Obolensky and Itay Chowers and Jacob Pe'er and Saul Merin and Tamar Ben-Yosef and Ruth Ashery-Padan and Eyal Banin and Dror Sharon},
  journal={American journal of human genetics},
  year={2010},
  volume={87 3},
  pages={382-91}
}
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region on chromosome 2p15 in patients with autosomal-recessive RP (arRP). This region partially overlaps with RP28, a previously identified arRP locus. Sequence analysis of 12 candidate genes revealed three null mutations in FAM161A in 20 families. RT-PCR analysis in 21 human tissues revealed high levels of… CONTINUE READING
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