Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families
| Autor: | Shokouh Sadat Mahdavi, Ariana Kariminejad, Hossein Najmabadi, Raheleh Vazehan, Kimia Kahrizi, Payman Jamali, Seyedeh Sedigheh Abedini, Faezeh Mojahedi, Mehrshid Faraji Zonooz, Hans-Hilger Ropers, Vera M. Kalscheuer, Sanaz Arzhangi, Mahsa Fadaee, Zohreh Fattahi, Maryam Beheshtian, Zahra Kalhor, Mahboubeh Kamgar, Farahnaz Sabbagh Kermani, Elham Parsimehr |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male Genes Recessive Disease 030105 genetics & heredity Biology Iran Cohort Studies 03 medical and health sciences Consanguinity Intellectual Disability Clinical information Intellectual disability Exome Sequencing Genetics medicine Gene family Humans Family Child Genetics (clinical) Rna processing Exosome Multienzyme Ribonuclease Complex fungi Infant medicine.disease Phenotype humanities Pedigree 030104 developmental biology Child Preschool Mutation Neurodevelopmental delay Identification (biology) Female geographic locations |
| Zdroj: | Clinical genetics. 95(6) |
| ISSN: | 1399-0004 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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