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. 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

Marta Joanna Podralska  1 , Agnieszka Stembalska  2 , Ryszard Ślęzak  2 , Aleksandra Lewandowicz-Uszyńska  3 , Barbara Pietrucha  4 , Sylwia Kołtan  5 , Jadwiga Wigowska-Sowińska  6 , Jacek Pilch  7 , Maria Mosor  1 , Iwona Ziółkowska-Suchanek  1 , Agnieszka Dzikiewicz-Krawczyk  1 , Ryszard Słomski  1
Affiliations

Ten new ATM alterations in Polish patients with ataxia-telangiectasia

Marta Joanna Podralska et al. Mol Genet Genomic Med. 2014 Nov.

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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Figures

Figure 1
Figure 1
Real-time PCR results for ATM mRNA levels. ATM mRNA levels were measured by RT-PCR from controls and individuals with c.3402+30_3402+32delATC and normalized to β-actin mRNA levels. Data are expressed as mean normalized expression ± s.d. The one-way ANOVA followed by Newman-Keuls test was performed to determine the significance. There are no significant differences in expression between patients with c.3402+30_3402+32delATC and controls.
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