Cerebral hypomyelination associated with biallelic variants of FIG4-Reference-Cited by-同舟云学术

Cerebral hypomyelination associated with biallelic variants of FIG4

Published:2019-02-28 Issue:5 Volume:40 Page:619-630
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lenk Guy M.¹^ORCID,Berry Ian R.²,Stutterd Chloe A.³⁴⁵,Blyth Moira⁶,Green Lydia⁷,Vadlamani Gayatri⁷,Warren Daniel⁸,Craven Ian⁸,Fanjul-Fernandez Miriam³⁴,Rodriguez-Casero Victoria⁵,Lockhart Paul J.³⁴,Vanderver Adeline⁹,Simons Cas³¹⁰,Gibb Susan⁴⁵,Sadedin Simon³⁴,White Susan M.³⁴¹¹,Christodoulou John³⁴¹¹,Skibina Olga¹²,Ruddle Jonathan⁵¹³¹⁴,Tan Tiong Y.³⁴¹¹,Leventer Richard J.³⁴⁵,Livingston John H.⁷,Meisler Miriam H.¹,

Affiliation:

1. Department of Human Genetics; University of Michigan; Ann Arbor Michigan

2. Leeds Genetics Laboratory; The Leeds Teaching Hospitals NHS Trust, St James's University Hospital; Leeds UK

3. Murdoch Children's Research Institute; Melbourne Australia

4. Department of Paediatrics; University of Melbourne; Melbourne Australia

5. Royal Children's Hospital; Melbourne Australia

6. Yorkshire Regional Genetics Service, The Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital; Leeds UK

7. Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary; Leeds UK

8. The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary; Leeds UK

9. Division of Neurology; Children's Hospital of Philadelphia and Perlman School of Medicine, University of Pennsylvania; Philadelphia Pennsylvania

10. Institute for Molecular Bioscience; University of Queensland; St Lucia Australia

11. Victorian Clinical Genetics Services; Melbourne Australia

12. Eastern Health Neurosciences; Box Hill Hospital, Monash University; Melbourne Australia

13. Centre for Eye Research Australia Ltd; East Melbourne Victoria Australia

14. Department of Ophthalmology; University of Melbourne; Melbourne Australia

Funder

National Institute of General Medical Sciences

National Human Genome Research Institute

National Eye Institute

National Heart, Lung and Blood Institute

NHMRC Postgraduate Scholarship

Neurogenetics Fellowship from Thyne-Reid Foundation and Macquarie Foundation

NHMRC Independent Research Institute Infrastructure Support Scheme

Victorian State Government Operational Infrastructure Program

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23720/fullpdf

Reference35 articles.

1. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria;Baulac;Neurology,2014

2. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase;Campeau;American Journal of Human Genetics,2013

3. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4;Chow;Nature,2007

4. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3;Cingolani;Fly (Austin),2012

5. New ocular findings in two sisters with Yunis-Varón syndrome and literature review;Corona-Rivera;European Journal of Medical Genetics,2011

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2. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants;PLOS Genetics;2023-06-26

3. Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c;G3: Genes, Genomes, Genetics;2023-01-24

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5. T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4 ‐related leukoencephalopathy;American Journal of Medical Genetics Part A;2022-12-18