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Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families
Author(s) -
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 HansHilger.,
Kariminejad Ariana,
Najmabadi Hossein,
Kahrizi Kimia
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13549
Subject(s) - genetics , gene , biology , intellectual disability , phenotype , identification (biology) , disease , gene family , medicine , genome , pathology , botany
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.