title: Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
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.
authors.affiliation: Institute of Human Genetics of the Polish Academy of Sciences Poznań, Poland.
authors.forename: Marta Joanna
authors.initials: MJ
authors.lastname: Podralska
authors.affiliation: Department of Genetics, Wroclaw Medical University Wroclaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Stembalska
authors.affiliation: Department of Genetics, Wroclaw Medical University Wroclaw, Poland.
authors.forename: Ryszard
authors.initials: R
authors.lastname: Ślęzak
authors.affiliation: 3rd Department and Clinic of Paediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University Wroclaw, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Lewandowicz-Uszyńska
authors.affiliation: Department of Immunology, The Children's Memorial Health Institute Warsaw, Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pietrucha
authors.affiliation: Department of Pediatrics, Hematology and Oncology, Institute of Pediatrics, Medical Academy Bydgoszcz, Poland.
authors.forename: Sylwia
authors.initials: S
authors.lastname: Kołtan
authors.affiliation: Department of Developmental Neurology, University of Medical Sciences Poznań, Poland.
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Wigowska-Sowińska
authors.affiliation: Department of Child Neurology, Medical University of Silesia Katowice, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Pilch
authors.affiliation: Institute of Human Genetics of the Polish Academy of Sciences Poznań, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Mosor
authors.affiliation: Institute of Human Genetics of the Polish Academy of Sciences Poznań, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Ziółkowska-Suchanek
authors.affiliation: Institute of Human Genetics of the Polish Academy of Sciences Poznań, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Dzikiewicz-Krawczyk
authors.affiliation: Institute of Human Genetics of the Polish Academy of Sciences Poznań, Poland.
authors.forename: Ryszard
authors.initials: R
authors.lastname: Słomski
keywords: ATM; Ataxia telangiectasia; MLPA; Polish population; mutation analysis; sequencing