Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing

被引：8

作者：

Babkina, Natalia ^{[1
,2
]}

Deignan, Joshua L. ^{[3
]}

Lee, Hane ^{[3
]}

Vilain, Eric ^{[2
,4
]}

Sankar, Raman ^{[5
,6
]}

Giurgea, Irina ^{[7
]}

Mowat, David ^{[8
]}

Graham, John M., Jr. ^{[1
,2
,9
]}

机构：

[1] Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA

[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Div Med Genet, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

[4] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA

[5] Univ Calif Los Angeles, David Geffen Sch Med, Mattel Childrens Hosp, Dept Neurol Pediat & Childrens Discovery, Los Angeles, CA 90095 USA

[6] Univ Calif Los Angeles, David Geffen Sch Med, Mattel Childrens Hosp, Innovat Inst, Los Angeles, CA 90095 USA

[7] Hop Henri Mondor, INSERM Equipe 11 U955, Serv Biochim Genet, F-94000 Creteil, France

[8] Univ New S Wales, Sydney Childrens Hosp, Sch Womens & Childrens Hlth, Dept Med Genet, Sydney, NSW 2052, Australia

[9] Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90502 USA

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2016年 / 59卷 / 02期

关键词：

Infantile Epileptic Encephalopathy (EIEE); ZEB2; Mowat-Wilson syndrome (MWS); Seizures; Infantile spasms; Burst-suppression EEG pattern; Developmental delay; Cortical gray and white matter atrophy; Clinical exome sequencing; MOWAT-WILSON-SYNDROME; OF-THE-LITERATURE; MISSENSE MUTATION; SPECTRUM; ZFHX1B; GENE; SIP1; PHENOTYPE; CONTACTIN-ASSOCIATED-PROTEIN-LIKE-2; INTERNEURONS;

D O I：

10.1016/j.ejmg.2015.12.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures, a burst-suppression EEG pattern, and progressive disturbance of cerebral function. We present a case of EIEE associated with a de novo missense variant in ZEB2. Heterozygous truncating mutations or deletions in ZEB2 are known to cause Mowat-Wilson syndrome (MWS), which is characterized by seizures with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient. This unique case expands the range of phenotypes associated with variants in ZEB2 and indicates that this gene should be included in the molecular investigation of EIEE cases. (C) 2016 Published by Elsevier Masson SAS.

引用

页码：70 / 74

页数：5

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