A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

S Khateb, B Kowalewski, N Bedoni, M Damme… – Genetics in Medicine, (2018) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans… homozygositymapper.org). WES analysis of individuals MOL0120 III:2 and MOL0737 II:2 was performed at Otogenetics (Norcross, GA) using Agilent V4 (Santa Clara, CA, USA) and Illumina HiSeq 2000 with 30 × coverage.