Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

被引：6

作者：

Krenn, Martin ^{[1
,2
]}

Knaus, Alexej ^{[3
]}

Westphal, Dominik S. ^{[2
,4
]}

Wortmann, Saskia B. ^{[2
,4
,5
]}

Polster, Tilman ^{[6
]}

Woermann, Friedrich G. ^{[6
]}

Karenfort, Michael ^{[7
]}

Mayatepek, Ertan ^{[7
]}

Meitinger, Thomas ^{[2
,4
]}

Wagner, Matias ^{[2
,4
,8
]}

Distelmaier, Felix ^{[7
]}

机构：

[1] Med Univ Vienna, Dept Neurol, Vienna, Austria

[2] Tech Univ Munich, Inst Human Genet, Munich, Germany

[3] Rhein Friedrich Wilhelms Univ, Inst Genom Stat & Bioinformat, Bonn, Germany

[4] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany

[5] Paracelsus Med Univ, Univ Childrens Hosp, Salzburg, Austria

[6] Bethel Epilepsy Ctr, Krankenhaus Mara, Bielefeld, Germany

[7] Heinrich Heine Univ Dusseldorf, Dept Gen Pediat Neonatol & Pediat Cardiol, Univ Childrens Hosp, Med Fac, Moorenstr 5, D-40225 Dusseldorf, Germany

[8] Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2019年 / 6卷 / 05期

关键词：

DE-NOVO MUTATIONS; ALKALINE-PHOSPHATASE; DELAY; BIOSYNTHESIS; GENE;

D O I：

10.1002/acn3.768

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the genes involved, PIGP, has recently been associated with infantile seizures and developmental delay in two siblings. Here, we report the second family with a markedly overlapping phenotype due to a homozygous frameshift mutation (c.456delA;p.Glu153Asnfs*34) in PIGP. Flow cytometry of patient granulocytes confirmed reduced expression of glycosylphosphatidylinositol-anchored proteins as functional consequence. Our findings corroborate PIGP as a monogenic disease gene for developmental and epileptic encephalopathy.

引用

页码：968 / 973

页数：6

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