부산대학교 도서관

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). GLO:8DU/01jan23:cge14230-toc-0001.jpg PHOTO (COLOR): . gl In 1937, Van Bogaert et al reported members of an extended family who shared a progressive disorder characterized by cataracts, tendon xanthomas, and neurodegeneration with evidence of cerebellar and cerebral white matter abnormalities on autopsy.[1] This condition, later named cerebrotendinous xanthomatosis (CTX), was subsequently reported around the world as a rare inborn error of sterol metabolism.[2] Based on pathogenic allele frequencies, CTX incidence has been estimated at 1:150,000 in Europeans; 1:250,000 in Africans; 1:70,000 in Americans; 1:65,000 in East Asians; and 1:35,000 in South Asians.[2] However, this estimate does not account for the higher incidence expected in consanguineous populations. (F, G) Brain MRI of IV:4, (F) T2 weighted image showing symmetric abnormal hyperintensities within cerebral peduncles, and (G) pons gl Patients IV:1 and IV:2 were exome sequenced and both received negative reports. [Extracted from the article]