Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM

Schroeder Simone; Wieland Britta; Ohlenbusch Andreas; Yigit Goekhan; Altmueller Janine; Boltshauser Eugen; Doerk Thilo; Brockmann Knut

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Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM

机译：泄漏剪接变异的致病性C.1066-6T> G Inatm的证据

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Mild clinical phenotypes of ataxia-telangiectasia (variant A-T) are associated with biallelicATMvariants resulting in residual function of the ATM kinase. At least one regulatory, missense, or leaky splice site mutation resulting in expression of ATM with low level kinase activity was identified in subjects with variant A-T. Studies on the pathogenicity of the germline splicingATMvariant c.1066-6T>G have provided conflicting results. Using whole-exome sequencing, we identified two splice siteATMvariants, c.1066-6T>G; [p.?], and c.2250G>A, [p.Ile709_Lys750del], in a compound heterozygous state in a 27-year-old woman who had been diagnosed as having congenital ocular motor apraxia type Cogan in her childhood. Reappraisal of her clinical phenotype revealed consistency with variant A-T. Functional analyses showed reduced expression of ATM protein and residual activity of the ATM kinase at a level consistent with variant A-T. Our results provide evidence for pathogenicity of the leakyATMsplice site variant c.1066-6T>G.

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来源
《American journal of medical genetics, Part A》 |2020年第12期|共5页
作者
Schroeder Simone; Wieland Britta; Ohlenbusch Andreas; Yigit Goekhan; Altmueller Janine; Boltshauser Eugen; Doerk Thilo; Brockmann Knut;
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作者单位

Univ Med Ctr Gottingen Interdisciplinary Pediat Ctr Children Dev Disabil Robert Koch Str 40 D;

Hannover Med Sch Gynaecol Res Unit Ctr Comprehens Canc Hannover Germany;

Univ Med Ctr Gottingen Interdisciplinary Pediat Ctr Children Dev Disabil Robert Koch Str 40 D;

Univ Med Ctr Gottingen Inst Human Genet Gottingen Germany;

Univ Cologne Cologne Ctr Genom Cologne Germany;

Univ Childrens Hosp Dept Pediat Neurol Zurich Switzerland;

Hannover Med Sch Gynaecol Res Unit Ctr Comprehens Canc Hannover Germany;

Univ Med Ctr Gottingen Interdisciplinary Pediat Ctr Children Dev Disabil Robert Koch Str 40 D;

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正文语种 eng
中图分类医学遗传学;
关键词
ataxia telangiectasia; ataxia-telangiectasia mutated gene; IVS10-6Tgt; G; leaky splice site variant; ocular motor apraxia; variant A-T;

机译：Ataxia Telanciectasia;Ataxia-Telanciectasia突变基因;IVS10-6T＆gt;G;漏液剪接部位变体;眼电机agaxia;变体A-T;

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Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM

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