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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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| Authors: | Maryam Beheshtian Zohreh Fattahi Mahsa Fadaee Raheleh Vazehan Payman Jamali Elham Parsimehr Mahboubeh Kamgar Mehrshid Faraji Zonooz Shokouh Sadat Mahdavi Zahra Kalhor Sanaz Arzhangi Seyedeh Sedigheh Abedini Farahnaz Sabbagh Kermani Faezeh Mojahedi Vera M Kalscheuer Hans-Hilger Ropers Ariana Kariminejad Hossein Najmabadi Kimia Kahrizi |
| Institution: | 1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Kariminejad – Najmabadi Pathology & Genetics Center, Tehran, Islamic Republic of Iran Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;2. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Kariminejad – Najmabadi Pathology & Genetics Center, Tehran, Islamic Republic of Iran;3. Kariminejad – Najmabadi Pathology & Genetics Center, Tehran, Islamic Republic of Iran;4. Shahrood Genetic Counseling Center, Semnan, Iran;5. Comprehensive Medical Genetics Center, Shiraz University of Medical Sciences, Shiraz, Iran;6. Genetic Clinic of Tehran Welfare Organization, Tehran, Iran;7. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;8. Clinical Research Unit, Afzalipour Hospital, Kerman, University of Medical Sciences, Kerman, Iran;9. Mashhad Medical Genetic Counseling Center, Mashhad, Iran;10. Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany;11. Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany |
| 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. |
| Keywords: | autosomal recessive EXOSC gene family intellectual disability Iranian families |