Table 2 of van Huet, Mol Vis 2015; 21:461-476.

Table 2. Efficacy in the identification of the genetic cause of autosomal recessive retinitis pigmentosa by the Asper micro-array chip with and without additional Sanger sequencing for this disease.

Chip version Number of patients Number of cases after microarray analysis (%) Number of genetically solved cases by additional Sanger sequencing (%)†
Genetically solved* Heterozygous No mutations
4 7 0 (0) 0 (0) 7 (100) 0 (0)
4.1 12 3 (25) 2 (16.7) 7 (58.3) 0 (0)
5 86 4 (4.7) 20 (23.3) 62 (72.1) 4 (4.7)
5.3 98 11 (11.2) 16 (16.3) 71 (72.4) 11 (11.2)
6 47 3 (6.4) 9 (19.1) 35 (74.4) 2 (4.3)
           
Overall 250 21 (8.5) 47 (18.8) 182 (72.8) 17 (6.8)

*Patients were considered genetically ‘solved’ if homozygous or compound heterozygous mutations were identified. Segregation analysis was performed in some but not all families. † Number of patients in whom the mutation on the second allele was identified by Sanger sequencing after identification of a heterozygous mutation by microarray screening.

van Huet, Mol Vis 2015; 21:461-476. http://www.molvis.org/molvis/v21/461

©2015 Molecular Vision http://www.molvis.org/molvis/

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