Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability

Retinitis pigmentosa (RP) is a hereditary eye disease marked by progressive degeneration of the retina – the part of the eye that is home to the photosensitive cells. RP can occur by itself or in combination with other impairments. The latter cases are known as syndromic RP. We identified mutations in a gene named SCAPER in four patients from Israel and Spain, affected by RP and intellectual disability. This gene was not previously associated with a human disease. Our findings place SCAPER as a gene necessary for normal function of both the retina and the brain. (By Dr. Tamar Ben-Yosef, http://jmg.bmj.com/content/early/2017/08/09/jmedgenet-2017-104632 )

SCAPER expression pattern in the mouse retina. (A) Sagittal sections of adult mouse retina were immunostained with an anti-SCAPER antibody (red); (B) DAPI nuclear staining (blue); (C) merge of images A and B. SCAPER expression was observed in the retinal pigment epithelium (RPE), in photoreceptor outer segments (OS) and inner segments, including the outer nuclear layer (ONL), in the inner plexiform layer (IPL) and in the ganglion cell layer (GCL). OS, outer segments; INL, inner nuclear layer. Scale bar, 20µm.