Exosome component 5, also known as EXOSC5, is a human gene, which is part of the exosome complex.[5]
Biallelic pathogenic variation in EXOSC5 causes autosomal recessive cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC, MIM 619576).[6][7][8][9] Individuals with CABAC often have delayed developmental milestones, intellectual disability, cerebellar ataxia, hypotonia, dysarthria, and dysmorphic facies. Cardiac abnormalities including conduction defects, right bundle branch block, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and/or ventricular tachycardia. Cardiac pacemakers and defibrillators have been needed, and sudden cardiac death has been reported.[6][7][8][9]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000077348 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000061286 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: EXOSC5 exosome component 5".
- ^ a b "Entry - #619576 - CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC - OMIM". omim.org. Retrieved 2023-01-23.
- ^ a b Beheshtian M, Fattahi Z, Fadaee M, Vazehan R, Jamali P, Parsimehr E, et al. (June 2019). "Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families". Clinical Genetics. 95 (6): 718–725. doi:10.1111/cge.13549. PMID 30950035. S2CID 96434991.
- ^ a b Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, et al. (August 2021). "Risk of sudden cardiac death in EXOSC5-related disease". American Journal of Medical Genetics. Part A. 185 (8): 2532–2540. doi:10.1002/ajmg.a.62352. PMC 8382094. PMID 34089229.
- ^ a b Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, et al. (August 2020). "Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness". Human Molecular Genetics. 29 (13): 2218–2239. doi:10.1093/hmg/ddaa108. PMC 7399534. PMID 32504085.