Novel Single Base Pair Deletion in ATM Cause Ataxia Telangiectasia in an Iranian Proband
Archives of Advances in Biosciences,
Vol. 8 No. 3 (2017),
13 June 2017
,
Page 59-64
https://doi.org/10.22037/jps.v8i3.12059
Abstract
Ataxia-telangiectasia is a rare disorder with neurological manifestations and caused by mutations in ATM gene. This gene produce a serine/threonine protein kinase, an activator of the DNA damage response in the face of DNA DSBs, which phosphorylates downstream substrates integrating with DNA repair procedure. Most ATM mutations are private mutations and, there is no mutational hotspots in the ATM gene. We unveiled a new mutation in this gene in an 8 years old A-T patient. This mutation led to fundamental alterations in ATM protein structure and representation of AT lastly.
- Ataxia Telangiectasia
- ATM
- Novel mutation
- Homozygous
- Frame shift
How to Cite
References
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