CLEC3B is a novel causative gene for macular-retinal dystrophy

Exome sequencing was performed to determine putative disease-causing genes in patients with inherited macular disorders confirmed by comprehensive ophthalmic examinations. Five multigenerational families diagnosed with autosomal dominant maculoretinopathy” were found to carry a pathogenic variant in a new gene, CLEC3B. This study recruited twelve affected individuals and seven healthy relatives from five large Japanese families in a small village in Miyazaki with an undetermined diagnosis of inherited macular disorder. According to their family history, there were multiple affected members spanning several generations in each family with 70% of female individuals. The inherited pattern was mostly consistent with an autosomal dominant pattern, as indicated in the familial pedigrees. Attached is WES data of six affected individuals (F1: IV-24, F1: VI-2, F2: IV-2, F3: IV-2, F3: V-3, and F5: V-10) and three unaffected siblings (F3: V-4, F3: V-6 and F5: IV-13) from five Japanese families.