Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, short stature, brachydactyly, a recognizable facial gestalt, premature skin aging and mild intellectual disability. EXOSC2 encodes a cap protein of the RNA exosome, the main cellular machinery responsible for degrading RNA molecules.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmuller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A
タイトル
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Yang X, Bayat V, DiDonato N, Zhao Y, Zarnegar B, Siprashvili Z, Lopez-Pajares V, Sun T, Tao S, Li C, Rump A, Khavari P, Lu B
タイトル
Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
