Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1 ‐associated neurodevelopmental disorder including a previously unreported retinal phenotype-Reference-Cited by-同舟云学术

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1 ‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Published:2020-12-22 Issue:1 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Rossetti Linda Z.¹^ORCID,Bekheirnia Mir Reza¹,Lewis Andrea M.¹,Mefford Heather C.²,Golden‐Grant Katie²,Tarczy‐Hornoch Kristina³,Briere Lauren C.⁴,Sweetser David A.⁴,Walker Melissa A.⁵,Kravets Elijah⁶,Stevenson David A.⁶,Bruenner Georgette⁷,Sebastian Jessica⁸,Knapo Julia⁸,Rosenfeld Jill A.¹,Marcogliese Paul C.¹⁹,Wangler Michael F.¹⁹,

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

2. Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA

3. Department of Ophthalmology University of Washington Seattle WA USA

4. Division of Medical Genetics and Metabolism Department of Pediatrics Massachusetts General HospitalHarvard Medical School Boston MA USA

5. Department of Neurology Division of Neurogenetics Child Neurology Massachusetts General Hospital Boston MA USA

6. Division of Medical Genetics Department of Pediatrics Stanford University Stanford CA USA

7. Division of Medical Genetics Department of Pediatrics Cohen Children’s Medical Center Queens NY USA

8. Division of Medical Genetics Department of Pediatrics UPMC Children’s Hospital of Pittsburgh Pittsburgh PA USA

9. Jan and Dan Duncan Texas Children’s Neurological Research Institute Houston TX USA

Funder

Research to Prevent Blindness

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1542

Reference18 articles.

1. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature

2. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

3. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

4. A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

5. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

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