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The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia
- Source :
- Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyREFERENCES. 32(6)
- Publication Year :
- 2021
-
Abstract
- BACKGROUND Ataxia-telangiectasia (A-T) is a rare genetic disorder characterized by a distinct range of clinical manifestations, including progressive ataxia, immunodeficiency, and radiosensitivity. METHODS Clinical data, laboratory results, and genetic data were collected from forty-three A-T patients. Whole-exome sequencing and Sanger sequencing were done for the patients clinically diagnosed as suffering from A-T. Based on the phenotype severity of the disease, patients were divided into severe and mild subgroups. RESULTS The median (IQR) age of diagnosis in this cohort was 5 (3-7) years, and various types of clinical manifestations, including fever (P =.005), lower respiratory tract infection (P = .033), diarrhea (P = .014), and hepatosplenomegaly (P = .032), were significantly higher among patients diagnosed with the severe phenotype. Our results showed a correlation between phenotype severity and mutation type. The chance of having severe phenotype in patients who have severe mutations, including frameshift and nonsense, was 7.3 times higher than in patients who were categorized in the mild genotype group (odds ratio = 7.3, P = .006). Thirty-four types of mutations including 9 novel mutations were observed in our study. CONCLUSION Molecular analysis provides the opportunity for accurate diagnosis and timely management in A-T patients with chronic progressive disease, especially infections and the risk of malignancies. This study characterizes for the first time the broad spectrum of mutations and phenotypes in Iranian A-T patients, which is required for carrier detection and reducing the burden of disease in the future using the patients' families and for the public healthcare system.
- Subjects :
- medicine.medical_specialty
Immunology
Hepatosplenomegaly
Ataxia Telangiectasia Mutated Proteins
Iran
03 medical and health sciences
Ataxia Telangiectasia
0302 clinical medicine
Lower respiratory tract infection
Internal medicine
Genotype
medicine
Immunology and Allergy
Humans
030212 general & internal medicine
Child
Immunodeficiency
Exome sequencing
business.industry
Genetic disorder
medicine.disease
Phenotype
030228 respiratory system
Child, Preschool
Pediatrics, Perinatology and Child Health
Ataxia-telangiectasia
Mutation
medicine.symptom
business
Progressive disease
Subjects
Details
- ISSN :
- 13993038
- Volume :
- 32
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyREFERENCES
- Accession number :
- edsair.doi.dedup.....c9803c967a806ba75d6d966eaca46c56