Ataxia telangiectasia [1 gene]

Ataxia-telangiectasia (AT) is a multisystemic disorder caused by mutations in the ATM gene. This gene encodes a protein involved in the control of cell division by repairing DNA damage. The ATM protein helps detect damaged DNA strands and coordinates double helix repair by activating specific enzymes, such as p53. Defects in the ATM gene result in a dysfunctional protein, without which there is no efficient DNA repair; therefore, the cells become unstable and eventually die. Immune and cerebellar cells are particularly affected by the loss of functional ATM protein.

For this reason, ataxia and immunodeficiency are among the main symptoms of this syndromic condition. In addition, since cells do not respond effectively to DNA damage, mutations can progressively accumulate in the DNA and eventually lead to the formation of cancerous tumors.

1/40,000-100,000

  • Differential diagnosis: cerebral palsy, Friedreich’s ataxia, Cogan’s oculomotor apraxia
  • Genetic counseling
  • Physical therapy
  • Ig replacement (IVIG)
  • Ionizing radiation and chemotherapy

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

Ataxia telangiectasia is inherited with an autosomal recessive pattern, so the presence of biallelic pathogenic variants is necessary to develop the disease. Affected individuals have a high risk (20-40%) of developing lymphoma and leukemia at an early age.

Ataxia telangiectasia should be suspected in patients with cerebellar atrophy, ataxia, ocular and cutaneous telangiectasia, hypogammaglobulinemia, and combined immunodeficiency. The manifestations become evident from the first year of life.

  • Ataxia
  • Telangiectasia
  • Chorea and myoclonus
  • Oculomotor apraxia
  • Chronic lung infections
  • Increased cancer risk: leukemia and lymphoma
  • Onset: infancy, childhood

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Ataxia telangiectasia

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008256

Ataxia telangiectasia: View panel
  • ATM

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Biton S, Barzilai A, Shiloh Y. The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. DNA Repair (Amst). 2008 Jul 1;7(7):1028-38. doi: 10.1016/j.dnarep.2008.03.006. Epub 2008 May 5. Review.
  2. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. Review.
  3. GeneReviews Ataxia-Telangiectasia. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2018. https://www.ncbi.nlm.nih.gov/books/NBK26468/