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September 10, 2025World Journal of Advanced Research and Reviews

Intrafamilial Variability in Ataxia-Telangiectasia: A Case Report of Three Siblings with Identical ATM Mutations

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Authors

EBElmakhzen BadreddineEAEL ALAMI Anass

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Overview

Case report reveals diverse clinical outcomes in siblings with the same ATM mutations, highlighting genetic variability.

Key Points

  • Marked variability in clinical presentation is noted among siblings with identical ATM mutations.
  • The siblings showed a range of symptoms, from early gait instability to late-onset motor regression.
  • Genetic background may influence the phenotypic expression of ataxia-telangiectasia in affected individuals.
  • All siblings had elevated serum alpha-fetoprotein levels, indicating shared pathological features.

Cite This Study

Badreddine et al. (2025) studied this question.

synapsesocial.com/papers/68c1d97d54b1d3bfb60fb249https://doi.org/10.30574/wjarr.2025.27.2.3077
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia2024
  2. 2Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge2025
  3. 3Novel genetic variants identification and immune profiling in ataxia telangiectasia patients2026
  4. 4Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes2025
  5. 5Genetic Spectrum of ATM Founder Mutations and Malignancy in Ataxia-Telangiectasia2026