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Podralska MJ, Stembalska A, Ślęzak R, et al. Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Mol Genet Genomic Med. 2014;2(6):504-11doi: 10.1002/mgg3.98.
Podralska, M. J., Stembalska, A., Ślęzak, R., Lewandowicz-Uszyńska, A., Pietrucha, B., Kołtan, S., Wigowska-Sowińska, J., Pilch, J., Mosor, M., Ziółkowska-Suchanek, I., Dzikiewicz-Krawczyk, A., & Słomski, R. (2014). Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Molecular genetics & genomic medicine, 2(6), 504-11. https://doi.org/10.1002/mgg3.98
Podralska, Marta Joanna, et al. "Ten new ATM alterations in Polish patients with ataxia-telangiectasia." Molecular genetics & genomic medicine vol. 2,6 (2014): 504-11. doi: https://doi.org/10.1002/mgg3.98
Podralska MJ, Stembalska A, Ślęzak R, Lewandowicz-Uszyńska A, Pietrucha B, Kołtan S, Wigowska-Sowińska J, Pilch J, Mosor M, Ziółkowska-Suchanek I, Dzikiewicz-Krawczyk A, Słomski R. Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30. PMID: 25614872; PMCID: PMC4303220.
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Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30.

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Molecular genetics & genomic medicine

Marta Joanna Podralska, Agnieszka Stembalska, Ryszard Ślęzak, Aleksandra Lewandowicz-Uszyńska, Barbara Pietrucha, Sylwia Kołtan, Jadwiga Wigowska-Sowińska, Jacek Pilch, Maria Mosor, Iwona Ziółkowska-Suchanek, Agnieszka Dzikiewicz-Krawczyk, Ryszard Słomski

Affiliations

  1. Institute of Human Genetics of the Polish Academy of Sciences Pozna?, Poland.
  2. Department of Genetics, Wroclaw Medical University Wroclaw, Poland.
  3. 3rd Department and Clinic of Paediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University Wroclaw, Poland.
  4. Department of Immunology, The Children's Memorial Health Institute Warsaw, Poland.
  5. Department of Pediatrics, Hematology and Oncology, Institute of Pediatrics, Medical Academy Bydgoszcz, Poland.
  6. Department of Developmental Neurology, University of Medical Sciences Pozna?, Poland.
  7. Department of Child Neurology, Medical University of Silesia Katowice, Poland.

PMID: 25614872 PMCID: PMC4303220 DOI: 10.1002/mgg3.98

Abstract

Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated mutational spectrum in Polish AT patients. As a result of molecular analysis, the status of recurrent mutation was confirmed and ten new ATM variants were detected. Application of MLPA analysis allowed the detection of large genomic deletion. Previously, this type of mutation had never been seen in our population. Finally, in silico analysis was carried out for newly detected ATM alterations. In addition, functional analysis was performed to evaluate the effects of intronic variants: c.3402+30_3402+32delATC.

Keywords: ATM; Ataxia telangiectasia; MLPA; Polish population; mutation analysis; sequencing

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