Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

Qin, Xiang; Cao, Yanna; Xu, Hongbo; Guo, Yi; Yang, Zhijian; Xu, Lu; Yuan, Lamei; Deng, Hao

doi:10.1042/bsr20180872

Cited by 16 publications

(17 citation statements)

References 40 publications

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“…So far, the use of a variety of mutation detection techniques for STGD have been reported, such as single-strand conformation polymorphism (SSCP)/heteroduplex analysis,35 high-resolution melting,36 microarray,37 and direct Sanger sequencing 38. These approaches are labor- and cost-intensive or low throughput.…”

Section: Molecular Basismentioning

confidence: 99%

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

Cicinelli¹,

Battista²,

Starace³

et al. 2019

OPTO

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Stargardt disease (STGD1) represents one of the major common causes of inherited irreversible visual loss. Due to its high phenotypic and genotypic heterogeneity, STGD1 is a complex disease to understand. Non-invasive imaging, biochemical, and genetic advances have led to substantial improvements in unveiling the disease processes and novel promising therapeutic landscapes have been proposed. This review recapitulates the modalities for monitoring patients with STGD1 and the therapeutic options currently under investigation for the different stages of the disease.

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Section: Molecular Basismentioning

confidence: 99%

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

Cicinelli¹,

Battista²,

Starace³

et al. 2019

OPTO

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“…Possible pathogenic effects of candidate variants were further predicted by the Protein Variation Effect Analyzer (PROVEAN, http://provean.jcvi.org/index.php), NetGene2 (http://www.cbs.dtu.dk/services/NetGene2/) and Spliceman (http://fairbrother.biomed.brown.edu/spliceman/ 27 http://www.swissmodel.expasy.org) and further visualized via PyMOL software (version 2.3; Schrödinger, LLC, Portland, USA) 28 29 …”

Section: Methodsmentioning

confidence: 99%

“… 27 Wild‐type and mutant protein of tertiary structure prediction were conducted with online SWISS‐MODEL tool ( http://www.swissmodel.expasy.org ) and further visualized via PyMOL software (version 2.3; Schrödinger, LLC, Portland, USA). 28 The classification of the identified variants was carried out by the American College of Medical Genetics (ACMG) interpretation guidelines for variants in Mendelian disorders. 29 …”

Section: Methodsmentioning

confidence: 99%

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia

Xiong

Hong

Yuan

et al. 2021

J Cellular Molecular Medi

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Primary ciliary dyskinesia (PCD) is a group of genetically and clinically heterogeneous disorders with motile cilia dysfunction. It is clinically characterized by oto‐sino‐pulmonary diseases and subfertility, and half of the patients have situs inversus (Kartagener syndrome). To identify the genetic cause in a Han‐Chinese pedigree, whole‐exome sequencing was conducted in the 37‐year‐old proband, and then, Sanger sequencing was performed on available family members. Minigene splicing assay was applied to verify the impact of the splice‐site variant. Compound heterozygous variants including a splice‐site variant (c.1974‐1G>C, rs1359107415) and a missense variant (c.7787G>A, p.(Arg2596Gln), rs780492669), in the dynein axonemal heavy chain 11 gene (DNAH11) were identified and confirmed as the disease‐associated variants of this lineage. The minigene expression in vitro revealed that the c.1974‐1G>C variant could cause skipping over exon 12, predicted to result in a truncated protein. This discovery may enlarge the DNAH11 variant spectrum of PCD, promote accurate genetic counselling and contribute to PCD diagnosis.

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“…Multiple orthologous sequence alignments from seven different species were conducted by the online Clustal Omega tool ( https://www.ebi.ac.uk/Tools/msa/clustalo/ ) as described previously [ 16 ].…”

Section: Methodsmentioning

confidence: 99%

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

Qin

Cao

et al. 2021

Journal of Ophthalmology

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Purpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger sequencing in available family members were performed to screen potential pathogenic variants. Results. Novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the major facilitator superfamily domain containing 8 gene (MFSD8) were suspected to be involved in this family’s macular dystrophy phenotype. The novel c.1066C>T variant in the MFSD8 gene probably resulted in substitution of serine for proline at the 356th residue and was predicted to be “uncertain significance” through in silico analyses. The novel c.1102+2T>C variant in the MFSD8 gene was likely to affect the splicing form and predicted to be “pathogenic.” Conclusion. The novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the MFSD8 gene are likely responsible for the isolated macular dystrophy phenotype in this family. This study enlarged the MFSD8 gene mutant spectrum and might provide more accurate genetic counseling for this family.

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Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

Cited by 16 publications

References 40 publications

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

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