Clinical and Molecular Spectrum of Ataxia Telangiectasia in Thirteen Indian Families: A Case Series
Naik Adarsha, Arya Shambhavi, Haseena Sait, Shubha R. Phadke, Amita MoirangthemAbstract
Background:
Ataxia-telangiectasia (A-T) is a rare, progressive neurodegenerative disorder caused by biallelic pathogenic variants in ATM, characterised by childhood-onset ataxia, recurrent infections, immunological abnormalities, and oculocutaneous telangiectasia.
Objectives:
To describe the clinical, laboratory, and molecular spectrum of genetically confirmed A-T in Indian families.
Materials and Methods:
Thirteen Indian families with genetically confirmed A-T were evaluated. Clinical, laboratory, immunological, and molecular findings were retrospectively reviewed. Exome sequencing was used for molecular diagnosis.
Results:
We describe thirteen Indian families with genetically confirmed A-T, highlighting their clinical, laboratory, and molecular features. Affected individuals commonly presented with early-onset progressive ataxia, ocular telangiectasia and variable immunoglobulin abnormalities. Exome sequencing identified a total of 18 variants in the ATM gene, including 6 nonsense, 5 frameshift, 4 missense, and 3 splice-site variants.
Conclusion:
This series highlights the clinical and molecular spectrum of A-T in Indian families and emphasises the importance of early recognition and molecular diagnosis for timely management and genetic counselling.