Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families

2020 ◽  
Vol 48 (3) ◽  
pp. 356-365
Author(s):  
Huijuan Xu ◽  
Shanshan Zhang ◽  
Lulin Huang ◽  
Peiquan Zhao ◽  
Xiang Zhang ◽  
...  
Keyword(s):  
Chinese Families ◽  
Familial Exudative Vitreoretinopathy ◽  
Novel Variants

scholarly journals Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy”

2017 ◽  
Vol 2017 ◽  
pp. 1-2
Author(s):  
Giancarlo Iarossi ◽  
Matteo Bertelli ◽  
Paolo Enrico Maltese ◽  
Elena Gusson ◽  
Giorgio Marchini ◽  
...  
Keyword(s):  
Familial Exudative Vitreoretinopathy ◽  
Novel Variants ◽  
Phenotype Characterization

scholarly journals Novel variants in PAX6 gene caused congenital aniridia in two Chinese families

Eye ◽  
2017 ◽  
Vol 31 (6) ◽  
pp. 956-961 ◽  
Author(s):  
R Zhang ◽  
S Linpeng ◽  
X Wei ◽  
H Li ◽  
Y Huang ◽  
...  
Keyword(s):  
Pax6 Gene ◽  
Chinese Families ◽  
Novel Variants ◽  
Congenital Aniridia

scholarly journals Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

2021 ◽  
Vol 12 ◽  
Author(s):  
Linya Ma ◽  
Jianjian Zhu ◽  
Jing Wang ◽  
Yazhou Huang ◽  
Jibo Zhang ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Related Disorder ◽  
Chinese Families ◽  
Missense Variants ◽  
Clinical Presentations ◽  
Splicing Variants ◽  
Novel Variants ◽  
Generation Sequencing

BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of melanosomes. Up to now, hundreds of OCA2 mutations have been reported and novel variants are still being discovered.MethodsIn this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of 28 OCA2 patients who had been genetically diagnosed by using Sanger sequencing and next-generation sequencing.ResultsIn this study, we reported 31 variants screened from 28 Chinese OCA2 families, and characterized the detailed molecular and clinical presentations. There were 12 novel variants among all detected variants, including 3 missense variants (p.G393V, p.T482A, and p.R720P), 4 frameshift variants (p.R53Gfs∗49, p.N279Kfs∗17, p.I469Lfs∗4, p.I655Nfs∗12), 2 splicing variants (c.1637-2A > G, c.1951 + 1G > C), 2 stopgain variants (p.L278X, p.W652X) and 1 insertion variants (p.P315LinsT). One potential cluster of missense variants was implicated indicating the important roles of the underlying domains in OCA2 pathogenesis.ConclusionOur results were beneficial for diagnosis and precision clinical management for OCA2-related disorder, and this study expanded the mutation spectrum of oculocutaneous albinism.

scholarly journals Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Xiao-Hui Wang ◽  
Le Xie ◽  
Sen Chen ◽  
Kai Xu ◽  
Xue Bai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Bioinformatics Analysis ◽  
Compound Heterozygous ◽  
Congenital Deafness ◽  
Chinese Families ◽  
Novel Variants ◽  
Common Causes ◽  
Compound Heterozygous Variants ◽  
Generation Sequencing

Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss. Using next-generation sequencing combined with auditory tests, two novel compound heterozygous variants c.2802_2812del/c.5681T>C and c.5681T>C/c.6340G>A in the MYO15A gene were identified in probands from two irrelevant Chinese families. Auditory phenotypes of the probands are consistent with the previously reported for recessive variants in the MYO15A gene. The two novel variants, c.2802_2812del and c.5681T>C, were identified as deleterious mutations by bioinformatics analysis. Our findings extend the MYO15A gene mutation spectrum and provide more information for rapid and precise molecular diagnosis of congenital deafness.

scholarly journals Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

2010 ◽  
Vol 31 (6) ◽  
pp. 656-666 ◽  
Author(s):  
Konstantinos Nikopoulos ◽  
Hanka Venselaar ◽  
Rob W.J. Collin ◽  
Rosa Riveiro-Alvarez ◽  
F. Nienke Boonstra ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Norrie Disease ◽  
Familial Exudative Vitreoretinopathy ◽  
Novel Variants

scholarly journals Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 537
Author(s):  
Lujia Zhang ◽  
Ya Li ◽  
Litao Qin ◽  
Yu Wu ◽  
Bo Lei
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Cultured Cells ◽  
Missense Variant ◽  
Chinese Families ◽  
Targeted Next Generation Sequencing ◽  
Novel Variants ◽  
Next Generation Sequencing Ngs ◽  
Computational Predictions

Retinitis pigmentosa 77 is caused by mutations of REEP6 (MIM: 609346), which encodes a protein for the development of photoreceptors. Our study was to identify disease-causing variants in three Chinese families using targeted next-generation sequencing (NGS). Multiple lines of computational predictions combined with in vitro cellular experiments were applied to evaluate the pathogenicity of the newly found variants. Three novel variants in REEP6, including one missense variant, c.268G>C, one frameshift variant, c.468delC, and one splicing variant, c.598+1G>C, were found, while c.268G>C was detected in all probands. The three variants were classified as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG). REEP6 variant proteins c.268G>C and c.468delC in cultured cells destabilized the REEP6 protein and induced intracellular inclusions. Our data suggested that REEP6 c.268G>C may be a recurrent causative variant in Chinese autosomal recessive retinitis pigmentosa patients.

scholarly journals Novel Variants in Phosphodiesterase 6A and Phosphodiesterase 6B Genes and Its Phenotypes in Patients With Retinitis Pigmentosa in Chinese Families

2021 ◽  
Author(s):  
Yuyu Li ◽  
Ruyi Li ◽  
Hehua Dai ◽  
Genlin Li
Keyword(s):  
Retinitis Pigmentosa ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Eye Disease ◽  
Specific Enzyme ◽  
Novel Mutations ◽  
Chinese Families ◽  
Novel Variants

Abstract Background: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with 65 causative genes identified to date. However, only approximately 60% of RP cases genetically solved to date, predicating that many novel disease-causing variants are yet to be identified. The purpose of this study is to identify novel variants in phosphodiesterase 6A and phosphodiesterase 6B genes and present its phenotypes in patients with retinitis pigmentosa in Chinese families.Methods: Five retinitis pigmentosa patients with PDE6A variants and three with PDE6B variants were identified through a hereditary eye disease enrichment panel (HEDEP), all patients’ medical and ophthalmic histories were collected, and ophthalmological examinations were performed, then we analysed the possible causative variants. Sanger sequencing was used to verify the variants.Results: We identified 20 mutations sites in eight patients, two heterozygous variants were identified per patient of either PDE6A or PDE6B variants, others are from CA4, OPTN, RHO, ADGRA3 variants. We identified two novel variants in PDE6A: c.1246G > A;p.(Asp416Asn) and c.1747T > A;p.(Tyr583Asn). Three novel mutations in PDE6B: c.401T > C;p.(Leu134Pro), c.2293G > C;p.(Ala765Pro) and c.1610-1612del;p.(537-538del).CA4: c.243G > A;p.(Trp81*) and RHO: c.688G>A;p.(Val230Ile) are novel variants and maybe affecting the phenotype. Among them, c.401T > C;p.(Leu134Pro) variant in PDE6B is non- pathogenic; RHO: c.688G>A;p.(Val230Ile) is conflicting interpretations of pathogenicity;Other novel variants are all pathogenic.Conclusions: This study reveals novel and known variants in Chinese families with PDE6A and PDE6B mutations in autosomal recessive RP, expanding the clinical and genetic findings of photoreceptor-specific enzyme deficiencies.

Familial Exudative Vitreoretinopathy-Like Features in Stickler Type IV Associated with Novel Variants in COL9A1

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hamad F. Alsubaie ◽  
Moustafa S. Magliyah ◽  
Osama AlRaddadi ◽  
Abdulrahman AlZaid ◽  
Sawsan R. Nowilaty
Keyword(s):  
Familial Exudative Vitreoretinopathy ◽  
Type Iv ◽  
Novel Variants
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