Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.

Autor: Arikan Y; Bozok University School of Medicine, Department of Medical Genetics, Yozgat, Turkey; Radboud University Medical Centre, Department of Human Genetics, Nijmegen, Netherland. Electronic address: yunus.arikan@radboudumc.nl., Berker Karauzum S; Akdeniz University School of Medicine, Department of Medical Biology, Antalya, Turkey; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: sibelberker@akdeniz.edu.tr., Uysal H; Akdeniz University School of Medicine, Department of Neurology, Antalya, Turkey. Electronic address: uysalh@akdeniz.edu.tr., Mihci E; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: emihci@akdeniz.edu.tr., Nur B; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: banunur@akdeniz.edu.tr., Duman O; Akdeniz University School of Medicine, Department of Neurology, Antalya, Turkey. Electronic address: oduman@akdeniz.edu.tr., Haspolat S; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: shaspolat@akdeniz.edu.tr., Altiok Clark O; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: ozdenclark@akdeniz.edu.tr., Toylu A; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: atoylu@akdeniz.edu.tr.
Jazyk: angličtina
Zdroj: Gene [Gene] 2022 May 20; Vol. 823, pp. 146322. Date of Electronic Publication: 2022 Feb 25.
DOI: 10.1016/j.gene.2022.146322
Abstrakt: SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were determined using MLPA method. We aimed to reveal both the most common copy number profiles of different SMA types. It was found that the frequency of homozygous deletions in SMN1 was 15.9%, while heterozygous deletions was 16.9%. The most common SMN-MLPA profile was 0-0-3-3. In the cases with homozygous deletion, SMA type III diagnosis was observed most frequently (44%), and the rate of consanguineous marriage was found 33%. Two cases with the same exonic copy number profile but with different clinical subtypes were identified in a family. We also detected distinct exonic deletion and duplication MLPA profiles for the first time. We created "the SMA signature" that can be added to patient reports. Furthermore, our data are important for revealing potential local profiles of SMA and describing the disease in genetic reports in a way that is clear and comprehensive.
(Copyright © 2022 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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