Identification of disease-causing variants in the EXOSC gene family underlying 
autosomal recessive intellectual disability in Iranian families

Beheshtian, Maryam; Fattahi, Zohreh; Fadaee, Mahsa; Vazehan, Raheleh; Jamali, Payman; Parsimehr, Elham; Kamgar, Mahboubeh; Zonooz, Mehrshid Faraji; Mahdavi, Shokouh Sadat; Kalhor, Zahra; Arzhangi, Sanaz; Abedini, Seyedeh Sedigheh; Kermani , Farahnaz Sabbagh; Mojahedi, Faezeh; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Kariminejad  , Ariana; Najmabadi, Hossein; Kahrizi, Kimia

doi:10.1111/cge.13549

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Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

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Kalscheuer, Vera M.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Ropers, Hans-Hilger
Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Beheshtian, M., Fattahi, Z., Fadaee, M., Vazehan, R., Jamali, P., Parsimehr, E., et al. (2019). Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical Genetics: an international journal of genetics in medicine, 95(6), 641-739. doi:10.1111/cge.13549.

Cite as: https://hdl.handle.net/21.11116/0000-0010-0AB7-5

Abstract

Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. By collecting clinical information on these families and comparing their phenotypes with previously reported patients, we further describe the clinical variability of ARID resulting from alterations in the EXOSC gene family, and emphasize the role of RNA processing dysregulation in ARID.