Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

被引：15

作者：

Pode-Shakked, Ben ^{[1
,2
,3
]}

Heimer, Gali ^{[2
,3
,4
]}

Vilboux, Thierry ^{[5
,6
]}

Marek-Yagel, Dina ^{[1
,3
,7
]}

Ben-Zeev, Bruria ^{[3
,4
,7
]}

David, Mariska ^{[8
]}

Ferreira, Carlos R. ^{[9
]}

Philosoph, Amit Mary ^{[1
,3
]}

Veber, Alvit ^{[1
,3
]}

Pode-Shakked, Naomi ^{[2
,3
,10
]}

Kenet, Gili ^{[3
,11
,12
]}

Soudack, Michalle ^{[3
,13
]}

Hoffmann, Chen ^{[3
,14
]}

Vernitsky, Helly ^{[15
]}

Safaniev, Marina ^{[15
]}

Lodzki, Maya ^{[16
]}

Lahad, Avishay ^{[8
,10
]}

Shouval, Dror S. ^{[3
,17
]}

Levinkopf, Dana ^{[3
,10
]}

Weiss, Batia ^{[3
,17
]}

Barg, Assaf Arie ^{[3
,11
,12
]}

Daka, Ayman ^{[3
,10
]}

Amariglio, Ninette ^{[3
,15
]}

Malicdan, May Christine V. ^{[5
,8
]}

Gahl, William A. ^{[5
,8
]}

Anikster, Yair ^{[1
,3
,7
]}

机构：

[1] Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Metab Dis Unit, Tel Hashomer, Israel

[2] Sheba Med Ctr, Talpiot Med Leadership Program, Tel Hashomer, Israel

[3] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel

[4] Edmond & Lily Safra Childrens Hosp, Pediat Neurol Unit, Sheba Med Ctr, Tel Hashomer, Israel

[5] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[6] Inova Hlth Syst, Inova Funct Lab, Fairfax, VA USA

[7] Sheba Med Ctr, Wohl Inst Translat Med, Tel Hashomer, Israel

[8] NHGRI, NIH Undiagnosed Dis Program, NIH, Bethesda, MD 20892 USA

[9] NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA

[10] Edmond & Lily Safru Childrens Hosp, Dept Pediat, Sheba Med Ctr, Tel Hashomer, Israel

[11] Sheba Med Ctr, Israeli Natl Hemophilia Ctr, Tel Hashomer, Israel

[12] Sheba Med Ctr, Thrombosis Unit, Tel Hashomer, Israel

[13] Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Imaging Unit, Tel Hashomer, Israel

[14] Sheba Med Ctr, Dept Radiol, Tel Hashomer, Israel

[15] Sheba Med Ctr, Hematol Lab, Tel Hashomer, Israel

[16] Sheba Med Ctr, Pharmaceut Serv, Tel Hashomer, Israel

[17] Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Div Pediat Gastroenterol Hepatol & Nutr, Tel Hashomer, Israel

来源：

MOLECULAR GENETICS AND METABOLISM | 2019年 / 128卷 / 1-2期

基金：

美国国家卫生研究院; 以色列科学基金会;

关键词：

PIGM; GPI; Glycosylphosphatidylinositol deficiency; Absence seizures; Portal vein thrombosis; Congenital disorders of glycosylation; ANCHOR-SYNTHESIS PATHWAY; CAUSE HYPERPHOSPHATASIA; TARGETED THERAPY; GPI; GENE; ECULIZUMAB; PHENOTYPE; EPILEPSY; SUBTYPE;

D O I：

10.1016/j.ymgme.2019.08.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Defects of the glycosylphosphatidylinositol (GPI) biosynthesis pathway constitute an emerging subgroup of congenital disorders of glycosylation with heterogeneous phenotypes. A mutation in the promoter of PIGM, resulting in a syndrome with portal vein thrombosis and persistent absence seizures, was previously described in three patients. We now report four additional patients in two unrelated families, with further clinical, biochemical and molecular delineation of this unique entity. We also describe the first prenatal diagnosis of PIGM deficiency, allowing characterization of the natural history of the disease from birth. The patients described herein expand the phenotypic spectrum of PIGM deficiency to include macrocephaly and infantile-onset cerebrovascular thrombotic events. Finally, we offer insights regarding targeted treatment of this rare disorder with sodium phenylbutyrate.

引用

页码：151 / 161

页数：11