Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect-Reference-Cited by-同舟云学术

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Published:2020-04-23 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Huang Di¹²³^ORCID,Thompson Jennifer A.⁴^ORCID,Charng Jason²^ORCID,Chelva Enid⁴^ORCID,McLenachan Samuel²^ORCID,Chen Shang‐Chih²^ORCID,Zhang Dan²^ORCID,McLaren Terri L.²⁴^ORCID,Lamey Tina M.²⁴^ORCID,Constable Ian J.²⁵^ORCID,De Roach John N.²⁴^ORCID,Aung‐Htut May Thandar¹³^ORCID,Adams Abbie¹^ORCID,Fletcher Sue¹³^ORCID,Wilton Steve D.¹³^ORCID,Chen Fred K.²⁴⁶⁷^ORCID

Affiliation:

1. Centre for Molecular Medicine and Innovative Therapeutics Murdoch University Murdoch Western Australia Australia

2. Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute) The University of Western Australia Nedlands Western Australia Australia

3. Centre for Neuromuscular and Neurological Disorders The University of Western Australia and Perron Institute for Neurological and Translational Science Nedlands Western Australia Australia

4. Australian Inherited Retinal Disease Registry and DNA Bank Department of Medical Technology and Physics Sir Charles Gairdner Hospital Nedlands Western Australia Australia

5. Department of Ophthalmology Sir Charles Gairdner Hospital Nedlands Western Australia Australia

6. Department of Ophthalmology Royal Perth Hospital Perth Western Australia Australia

7. Department of Ophthalmology Perth Children's Hospital Nedlands Western Australia Australia

Funder

National Health and Medical Research Council

Macular Disease Foundation Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1259

Reference50 articles.

1. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

3. The intronicABCA4c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level

4. ISCEV standard for clinical pattern electroretinography (PERG): 2012 update

5. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

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