
Ten new ATM alterations in Polish patients with ataxia‐telangiectasia
Author(s) -
Podralska Marta Joanna,
Stembalska Agnieszka,
Ślęzak Ryszard,
LewandowiczUszyńska Aleksandra,
Pietrucha Barbara,
Kołtan Sylwia,
WigowskaSowińska Jadwiga,
Pilch Jacek,
Mosor Maria,
ZiółkowskaSuchanek Iwona,
DzikiewiczKrawczyk Agnieszka,
Słomski Ryszard
Publication year - 2014
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.98
Subject(s) - ataxia telangiectasia , multiplex ligation dependent probe amplification , mutation , gene , genetics , population , ataxia , mutation testing , medicine , biology , exon , dna , neuroscience , environmental health , dna damage
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+32del ATC .