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Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations Publisher Pubmed



Badalzadeh M1, 2, 3 ; Soleimani Bavani M1, 2, 3 ; Alizadeh Z1, 2, 3 ; Mirmoghtadaei M1, 2, 3 ; Shakerian L1, 2, 3 ; Bahram S4 ; Molitor A5 ; Carapito R5 ; Moradi L1, 2, 3 ; Razaghian A6 ; Assari R7 ; Movahedi M8, 12 ; Shariat M9 ; Houshmand M10 Show All Authors
Authors
  1. Badalzadeh M1, 2, 3
  2. Soleimani Bavani M1, 2, 3
  3. Alizadeh Z1, 2, 3
  4. Mirmoghtadaei M1, 2, 3
  5. Shakerian L1, 2, 3
  6. Bahram S4
  7. Molitor A5
  8. Carapito R5
  9. Moradi L1, 2, 3
  10. Razaghian A6
  11. Assari R7
  12. Movahedi M8, 12
  13. Shariat M9
  14. Houshmand M10
  15. Habibi L1, 2, 3
  16. Hamidieh AA11
  17. Ashrafi MR8, 12
  18. Fazlollahi MR1, 2, 3
  19. Pourpak Z1, 2, 3
Show Affiliations
Authors Affiliations
  1. 1. Immunology, Asthma and Allergy Research Institute, Iran AND Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Immunology, Asthma and Allergy Research Institute, Iran AND Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Immunology, Asthma and Allergy Research Institute, Iran AND Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Laboratoire d'ImmunoRhumatologie Moleculaire, plateforme GENOMAX, Federation Hospitalo-Universitaire OMICARE, Federation de Medecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Universite de Strasbourg, France AND Service d'Immunologie Biologique, Plateau Technique de Biologie, Pole de Biologie, Nouvel Hopital Civil, Faculte de Medecine1 place de l'Hopital, Strasbourg, France
  5. 5. Laboratoire d'ImmunoRhumatologie Moleculaire, plateforme GENOMAX, Federation Hospitalo-Universitaire OMICARE, Federation de Medecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Universite de Strasbourg, Faculte de Medecine, Strasbourg, France
  6. 6. Immunology, Asthma and Allergy Research Institute, Iran AND Division of Allergy and Clinical Immunology, Department of Pediatrics, Hakim Children's Hospital, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Children's Medical Center Hospital, Pediatrics Center of Excellence, Iran AND Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  9. 9. Department of Immunology and Allergy, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  10. 10. Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
  11. 11. Pediatric Cell and Gene Therapy Research Center, Cell and Tissue Research Institute, Tehran University of Medical Sciences, Gene, Tehran, Iran
  12. 12. Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian journal of allergy, asthma, and immunology Published:2025


Abstract

Ataxia Telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ataxia telengiectasia mutated (ATM) gene. The gene is on chromosome 11q22-23 and codes for the protein kinase ATM, which plays an essential role in DNA damage repair. In this study, we review the clinical characteristics of 13 A-T patients, 2 of whom displayed novel mutations. Thirteen patients with ataxia-telangiectasia from 10 unrelated families were referred to  Immunology, Asthma and Allergy Research Institute, Tehran, Iran. After clinical confirmation, blood samples were collected from the patients and their parents. Genetic analysis for 8 patients was conducted using whole-exome sequencing; in the other 3 patients, polymerase chain reaction was used, followed by sequencing. We identified 11 different mutations in the ATM gene. Two patients had mutations as compound heterozygous, while 9 other patients were homozygous for the mutations. Among these, 2 likely pathogenic mutations (ie, c.2639-1G>A and c.7940_7970del​TTCCAGCAGA​CCAGCCAATT​ACTAAACTTAA) have not been reported. Our study highlights the significance of next-generation sequencing techniques in identifying novel ATM mutations in A-T patients. Although all reported A-T mutations reside in 1 gene, the absence of a mutation hotspot for this gene necessitates the use of next-generation sequencing techniques. Specifically, we identified 2 mutations that have not been reported previously, emphasizing the importance of continued research in this area. This study provides new insights into the genetic underpinnings of A-T and underscores the potential clinical implications of identifying novel mutations.