anti-Chromosome 2 Open Reading Frame 71 (C2orf71) 抗体

Human Chromosome 2 Open Reading Frame 71 (C2orf71) interaction partners

1. We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy (显示 MERTK 抗体), likely through the genetic interaction of at least two loci.

2. On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations.

3. A homozygous nonsense CEP250 (显示 CEP250 抗体) mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa.

4. Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.

5. C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection.

6. Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.

7. Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported.