In case 71674, diagnosed with arRD, along with a recurrent nonsense mutation (p.Trp663*, HGMD Accession = {"type":"entrez-nucleotide","attrs":{"text":"CM003370","term_id":"909078994","term_text":"CM003370"}}CM003370), a novel splice-site variant was identified (c.2160 + 1 G > T) (Fig. 3a). This variant is predicted to lead to skipping of exon 14 in the ABCA4 transcript. The patient inherited one mutant allele from each parent.
Patient 71674: Female, Swiss, 13 years old. bi-allelic variants in ABCA4, diagnosed with Retinal dystrophy DD: Retinitis pigmentosa
Figure 3: Segregation analysis performed on family samples GenotypingMethod: Whole exome sequencing performed on HiSeq2000 and NextSeq500 (252 genes)
Multiple Variants: VPS13B NM_017890.4:c.897 8A>G:p.Asn2993Ser Heterozygous CM041280
PCDH15 NM_001142763.1:c. 4329_4337del:p.Pro 1446_Pro1448del Heterozygous
DHX38 NM_014003.3:c.366 2C>T:p.Thr1221Met Heterozygous
USH1G NM_173477.4:c.310 A>G:p.Met104Val Heterozygous