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- Title
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
- Authors
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
- 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.
- Subjects
GENE expression; NUCLEOTIDE sequencing; MAGNETIC resonance imaging; GENOMES; GENETIC mutation
- Publication
Clinical Genetics, 2019, Vol 95, Issue 6, p718
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13549