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
Jiewen FuJunjiang Fu

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 ...Continue Reading

References

Oct 13, 2001·Brain Research. Molecular Brain Research·D NakajimaO Ohara
Mar 16, 2005·Journal français d'ophtalmologie·C Maubaret, C Hamel
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Sep 2, 2010·Journal of Medical Genetics·E OstergaardT Rosenberg
Oct 29, 2010·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean
Dec 2, 2011·Current Genomics·Stefano FerrariFrancesco Parmeggiani
Mar 30, 2012·International Journal of Biological Sciences·Junjiang FuJianming Xu
May 19, 2012·Science·Jacob A TennessenUNKNOWN NHLBI Exome Sequencing Project
Oct 10, 2012·Archives of Ophthalmology·Jacque L DuncanRadha Ayyagari
Sep 14, 2016·Investigative Ophthalmology & Visual Science·Gavin ArnoAndrew R Webster
Sep 16, 2016·Journal of Medical Genetics·Qing FuRui Chen
Dec 3, 2016·Nucleic Acids Research·Aron Marchler-BauerStephen H Bryant
Aug 3, 2017·Scientific Reports·Katarina StinglNicole Weisschuh
Aug 8, 2017·Archives of Pathology & Laboratory Medicine·Sophia Yohe, Bharat Thyagarajan
Dec 2, 2017·Journal of Cellular and Molecular Medicine·Saber ImaniJunjiang Fu

❮ Previous
Next ❯

Citations

Mar 21, 2019·Journal of Cellular and Molecular Medicine·Jingliang ChengJunjiang Fu
Nov 30, 2019·Journal of Cellular and Molecular Medicine·Jingliang ChengJunjiang Fu
Dec 18, 2020·Frontiers in Cell and Developmental Biology·Warlen Pereira PiedadeJakub K Famulski

❮ Previous
Next ❯

Methods Mentioned

BETA
immunoprecipitation
fluorescence assay
PCR
electrophoresis

Software Mentioned

SIFT
SNP2
MutationAssessor
LRT
Indel2
MutationTaster
GATK
Atlas
Polyphen
Burrows Aligner

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.