ArticleJournal of cellular and molecular medicine2018
A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.
Article in Journal of cellular and molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Clinical Phenotypes ofGenes · 2022Article
- Article
- Novel mutations inInternational journal of ophthalmology · 2021Article
- A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.Journal of cellular and molecular medicine · 2020Article
- Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Bioscience reports · 2020Article
- Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in theFrontiers in genetics · 2020Article
- Identification of a novel germline BRCA2 variant in a Chinese breast cancer family.Journal of cellular and molecular medicine · 2020Article
- Proteasome-Mediated Regulation of Cdhr1a by Siah1 Modulates Photoreceptor Development and Survival in Zebrafish.Frontiers in cell and developmental biology · 2020Article
- A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.Bioscience reports · 2019Article
- Characterization and molecular cloning of novel isoforms of human spermatogenesis associated gene SPATA3.Molecular biology reports · 2019Article
- A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.Journal of cellular and molecular medicine · 2019Article
- Novel splicing variant c. 208+2T>C inBioscience reports · 2019Article
- A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novelHuman genome variation · 2019Article
- Evaluation genotypes of cancer cell lines HCC1954 and SiHa by short tandem repeat (STR) analysis and DNA sequencing.Molecular biology reports · 2018Article
- A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.Journal of cellular and molecular medicine · 2018Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive retinal retinopathy cone-and-rod dysfunction and macular dystrophy have not been well described in the Chinese population. In this study, a three-generation Chinese retinal dystrophy family was recruited. Ophthalmic examinations were performed. Targeted next generation sequencing (TGS) was used to identify causative genes, and Sanger sequencing was conducted to verify candidate mutations and co-segregation. Reverse transcription (RT)-PCR was applied to investigate the spatial and temporal expression patterns of cdhr1 gene in mouse. A novel, homozygous, deleterious and nonsense variant (c.T1641A; p.Y547*) in the CDHR1 gene was identified in the family with autosomal recessive retinal dystrophy, which was co-segregated with the clinical phenotypes in this family. RT-PCR analysis revealed that cdhr1 is ubiquitously expressed in eye, particularly very high expression in retina; high expression in lens, sclera, and cornea; and high expression in brain. In conclusion, our study is the first to indicate that the novel homozygous variant c.T1641A (p.Y547*) in the CHDR1 gene might be the disease-causing mutation for retinal dystrophy in our patient, extending its mutation spectrums. These findings further the understanding of the molecular pathogenesis of this disease and provide new insights for diagnosis as well as new implications for genetic counselling.
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