A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome-Reference-Cited by-同舟云学术

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Published:2020-09-05 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Geerts‐Haages Amber¹,Bossuyt Stijn N. V.²,Besten Inge¹,Bruggenwirth Hennie³,Burgt Ineke⁴,Yntema Helger G.⁴,Punt A. Mattijs⁵,Brooks Alice³⁶,Elgersma Ype⁵⁶,Distel Ben²⁵⁶^ORCID,Valstar Marlies¹⁶⁷

Affiliation:

1. Intellectual Disability Medicine Department of General Practice Erasmus MC University Medical Center Rotterdam The Netherlands

2. Department of Medical Biochemistry Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

3. Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands

4. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

5. Department of Neuroscience Erasmus MC University Medical Center Rotterdam The Netherlands

6. ENCORE Expertise Center for Neurodevelopmental Disorders Erasmus MC University Medical Center Rotterdam The Netherlands

7. ASVZ, Medical Department Care and Service Centre for People with Intellectual Disabilities Sliedrecht The Netherlands

Funder

Angelman Syndrome Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1481

Reference43 articles.

1. Psychometric characteristics of the aberrant behavior checklist;Aman M. G.;American Journal of Mental Deficiency,1985

2. ‘Puppet’ Children A Report on Three Cases

3. Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

4. Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria

5. Angelman syndrome: review of clinical and molecular aspects

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. NEAT1 Promotes Valproic Acid-Induced Autism Spectrum Disorder by Recruiting YY1 to Regulate UBE3A Transcription;Molecular Neurobiology;2024-06-26

2. Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey;Congenital Anomalies;2024-03-23

3. Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants;Neurology Asia;2023-12

4. Angelman syndrome in two siblings: clinical case;Pediatric pharmacology;2023-03-01

5. Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome;Life Science Alliance;2022-06-28