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
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Islamic Republic of Iran.
Clin Genet. 2019 Jun;95(6):718-725. doi: 10.1111/cge.13549. Epub 2019 May 14.
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.
神经发育迟缓与智力残疾（ID）可能由多种基因缺陷引起。迄今为止，EXOSC基因家族中的变异已与这类疾病相关联。利用下一代测序（NGS）技术，在五个伊朗家庭中鉴定出了该基因家族中导致常染色体隐性智力残疾（ARID）的已知和新型变异。通过收集这些家庭的临床信息，并将他们的表型与先前报道的患者进行比较，我们进一步描述了由EXOSC基因家族改变导致的ARID的临床变异性，并强调了RNA加工失调在ARID中的作用。
