Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency
| Autor: | Manisha Madkaikar, Anil K. Madugundu, Sunita Yadavalli, Babylakshmi Muthusamy, Akhilesh Pandey, K. S. S. Reddy, Aravind K. Bandari, Pavithra Rajagopalan, M.V. Archana, Sunil Bhat, Krishna Patel |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine bone marrow transplantation Primary Immunodeficiency Diseases Biology primary immunodeficiency medicine.disease_cause Biochemistry DNA sequencing molecular diagnostics 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Exome Genetic Predisposition to Disease Molecular Biology Gene Research Articles Mutation Severe combined immunodeficiency Newborn screening newborn screening business.industry High-Throughput Nucleotide Sequencing medicine.disease Molecular diagnostics 3. Good health 030104 developmental biology 030220 oncology & carcinogenesis Primary immunodeficiency Molecular Medicine next-generation sequencing Female Personalized medicine business genetic defects Interleukin Receptor Common gamma Subunit Biotechnology |
| Zdroj: | OMICS : a Journal of Integrative Biology |
| ISSN: | 1557-8100 |
| DOI: | 10.1089/omi.2018.0196 |
| Popis: | Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma (IL2RG) gene. The mother was found to be a carrier. These findings are consistent with a diagnosis of X-linked severe combined immunodeficiency and represent the first such reported mutation in an Indian family. This mutation leads to an asparagine to lysine substitution (p.Asn84Lys) located in the extracellular domain of IL2RG, which is predicted to be pathogenic. Our study demonstrates the power of next-generation sequencing in identifying potential causative mutations to enable accurate clinical diagnosis, prenatal screening, and carrier female detection in PID patients. We believe that this approach, which is not a current routine in clinical practice, will become a mainstream component of individualized medicine in the near future. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|