Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population.

Autor:	Khanbazi A; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran.; Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran., Beheshtian M; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran.; Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran., Azad M; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Akbari Kelishomi M; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Afroozan F; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Fatehi F; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Noudehi K; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Zamanian Najafabadi S; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Omrani M; Urology and Nephrology Research Center (UNRC), Shahid Beheshti University of Medical Sciences, Tehran, Iran., Habibi H; Dr Habibi genetic counseling center, Hamedan, Iran., Taghdiri M; Shiraz Genetic Counseling Center, Welfare Office, Shiraz, Iran., Abdi Rad I; Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran., Nafissi S; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran., Jankhah A; Shiraz Genetic Counseling Center, Shiraz, Iran., Yazdan H; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Daneshmand P; Daneshmand Medical Genetics Center, Amol, Mazandaran, Iran., Saberi SH; Medical-Genetic Counseling Center, Alborz Welfare Organization, Karaj, Iran., Kahrizi K; Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran., Kariminejad A; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran., Najmabadi H; Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran. hnajm12@yahoo.com.; Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran. hnajm12@yahoo.com.
Jazyk:	angličtina
Zdroj:	Scientific reports [Sci Rep] 2024 Dec 02; Vol. 14 (1), pp. 29880. Date of Electronic Publication: 2024 Dec 02.
DOI:	10.1038/s41598-024-76815-x
Abstrakt:	Copy number variations in the SMN1 gene on chromosome 5 are the primary cause of Spinal Muscular Atrophy (SMA) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord. To obtain a comprehensive molecular understanding of the SMA, including carriers, silent carriers, and patients in the Iranian population, we analyzed data from 5224 individuals referred to Kariminejad - Najmabadi Pathology & Genetics Center, Tehran, Iran, between 2006 and 2023 using MLPA and quantitative RT-PCR methods. The carrier frequency of SMA was estimated to be 5.55%. Furthermore, 3.06% of SMA parents (n = 24) had two copies of the SMN1 gene. Among 725 patients, those with an earlier onset of SMA were more likely to have two copies of the SMN2 gene (46.45%) and no copies of the NAIP gene (49.36%). Among the 654 fetal samples screened for SMA, 22.33% were found to be affected, while 3.46% of their parents tested normal. These findings are valuable for genetic counseling, carrier screening, and prenatal diagnosis of SMA in Iran. Furthermore, they underscore the importance of CNV analysis of SMN1, SMN2, and NAIP genes for accurate diagnosis and prognosis of SMA. Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Ethical statements: This study has been confirmed by the ethical committee of the University of Social Welfare and Rehabilitation Sciences in Iran (Ethics code: IR.USWR.REC.1401.247). Prior to conducting any testing, it was imperative to obtain informed consent from all individuals and/or their legal guardian(s). (© 2024. The Author(s).)
Databáze:	MEDLINE
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