Journal
CLINICAL GENETICS
Volume 95, Issue 6, Pages 718-725Publisher
WILEY
DOI: 10.1111/cge.13549
Keywords
autosomal recessive; EXOSC gene family; intellectual disability; Iranian families
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Funding
- Iran National Science Foundation (INSF) [950022, 96011200]
- National Institute for Medical Research Development (NIMAD) [957060, 958715]
- National Institute for Medical Research Development
- Iran National Science Foundation
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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.
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