Ten new ATM alterations in Polish patients with ataxia-telangiectasia

被引：20

作者：

Podralska, Marta Joanna ^{[1
]}

Stembalska, Agnieszka ^{[2
]}

Slezak, Ryszard ^{[2
]}

Lewandowicz-Uszynska, Aleksandra ^{[3
]}

Pietrucha, Barbara ^{[4
]}

Koltan, Sylwia ^{[5
]}

Wigowska-Sowinska, Jadwiga ^{[6
]}

Pilch, Jacek ^{[7
]}

Mosor, Maria ^{[1
]}

Ziolkowska-Suchanek, Iwona ^{[1
]}

Dzikiewicz-Krawczyk, Agnieszka ^{[1
]}

Slomski, Ryszard ^{[1
]}

机构：

[1] Polish Acad Sci, Inst Human Genet, Ul Strzeszynska 32, PL-60479 Poznan, Poland

[2] Wroclaw Med Univ, Dept Genet, Wroclaw, Poland

[3] Wroclaw Med Univ, Dept & Clin Paediat 3, Immunol & Rheumatol Dev Age, Wroclaw, Poland

[4] Childrens Mem Hlth Inst, Dept Immunol, Warsaw, Poland

[5] Med Acad, Inst Pediat, Dept Pediat Hematol & Oncol, Bydgoszcz, Poland

[6] Univ Med Sci, Dept Dev Neurol, Poznan, Poland

[7] Med Univ Silesia, Dept Child Neurol, Katowice, Poland

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2014年 / 2卷 / 06期

关键词：

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

D O I：

10.1002/mgg3.98

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：504 / 511

页数：8

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