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 Persistent iris vessels in a case of aniridia

2021 ◽  
Vol 2 (2) ◽  
Author(s):  
Rashmi Deshmukh ◽  
◽  
Madhavan Rajan ◽  
Keyword(s):  
Pax6 Gene ◽  
Peters Anomaly ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia

Congenital aniridia is caused by a mutation in the PAX6 gene [1] and is characterized by partial or complete absence of iris tissue. Apart from the hypoplasia of iris tissue, other ocular features such as foveal hypoplasia, nystagmus, aniridia-related keratopathy, Peters anomaly, Axenfeld-Rieger anomaly and glaucoma are seen in these eyes [1,2]. Cases have been reported with persistent pupillary membranes [3] and iris strands [4].

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 GENETIC APPROACHES TO DIFFERENTIAL DIAGNOSIS OF HEREDITARY FORMS OF CONGENITAL ANIRIDIA

2017 ◽  
Vol 72 (4) ◽  
pp. 233-241 ◽  
Author(s):  
T. A. Vasilyeva ◽  
A. A. Voskresenskaya ◽  
O. V. Khlebnikova ◽  
N. A. Pozdeyeva ◽  
A. V. Marakhonov ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Chromosomal Rearrangements ◽  
Anterior Segment ◽  
Brain Structures ◽  
Pleiotropic Effect ◽  
Endocrine Function ◽  
Pax6 Gene ◽  
Clinical Genetic ◽  
Congenital Aniridia

Congenital aniridia (AN) is a hereditary autosomal dominant developmental disorder of the eye. Heterozygous mutations in the PAX6 gene and chromosomal rearrangements involving the 11p13 locus lie behind the pathogenesis of the AN. The key role of the PAX6 gene in the regulation of embryogenesis and the pleiotropic effect of this transcription factor explain the damage of several tissues of the anterior and posterior segments of the eye, brain structures, and the disturbance of morphogenesis and endocrine function of the pancreas observed in AN. Recently AN has been considered a syndromic pathology by several researchers. The review suggests classification and summarizes information on the clinical characteristics and genetic basis of various forms of AN. The problem of discrimination of clinical-genetic variants of the dysgenesis of the anterior segment of the eye and the differential diagnosis of PAX6-associated AN with WAGR syndrome, anterior dysgenesis, other rare monogenic and chromosomal syndromes is discussed, and the role of molecular diagnostics is emphasized.

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 Detection of a novel PAX6 mutation in a Chinese family with multiple ocular abnormalities

2020 ◽  
Author(s):  
Junyi Ouyang ◽  
Ziyan Cai ◽  
Yinjie Guo ◽  
Fen Nie ◽  
Mengdan Cao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Pax6 Gene ◽  
Anterior Chamber Angle ◽  
Loss Of Function ◽  
Heterozygous Deletion ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia ◽  
Generation Sequencing ◽  
Pax6 Mutation

Abstract Background: Aniridia is a congenital, panocular disease affecting the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function mutations were the most common cause of aniridia .Mutations throughout the PAX6 gene have been linked to a range of ophthalmic abnormalities, with distinct mutations at a given site within this gene leading to distinct phenotypic findings.This s tudy aimed to characterize genetic mutations associated with congenital aniridia in a Chinese family. Methods: The proband and the proband’s brother of this family underwent comprehensive ophthalmologic examinations as well as exome sequencing, with Next Generation Sequencing being used to confirm these results. Results: A novel mutation (c.114_119delinsAATTTCC:p.Pro39fs) in the PAX6 gene was identified in subjects III-2 and III-3 in these family, and both of these subjects exhibited complete aniridia, cataracts, glaucoma, high myopia, and foveal hypoplasia. Conclusions: We identified a novel PAX6 frameshift heterozygous deletion mutation in a Chinese family and determined that this mutation was a probable cause of various eye abnormalities in carriers.

scholarly journals Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Pedro Calvão-Pires ◽  
R. Santos-Silva ◽  
F. Falcão-Reis ◽  
A. Rocha-Sousa
Keyword(s):  
Gene Expression ◽  
Visual Acuity ◽  
Prognostic Factors ◽  
Clinical Characteristics ◽  
Rare Condition ◽  
Posterior Segment ◽  
Eye Lens ◽  
Pax6 Gene ◽  
Congenital Aniridia ◽  
Foveal Hypoplasia

Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient’s visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors.

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia

2018 ◽  
Vol 39 (4) ◽  
pp. 428-436
Author(s):  
Xiaoqi Liu ◽  
Yaqi Wu ◽  
Zequn Miao ◽  
Houbin Zhang ◽  
Bo Gong ◽  
...  
Keyword(s):  
Chinese Family ◽  
Pax6 Gene ◽  
Congenital Aniridia

scholarly journals Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 707
Author(s):  
Maria Nieves-Moreno ◽  
Susana Noval ◽  
Jesus Peralta ◽  
María Palomares-Bralo ◽  
Angela del Pozo ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Accurate Diagnosis ◽  
Future Generations ◽  
Pax6 Gene ◽  
Severe Phenotype ◽  
Congenital Cataracts ◽  
Phenotypic Spectrum ◽  
Congenital Aniridia

Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in PAX6, and very different clinical manifestations. Results: Only two patients had the classical aniridia phenotype while the other two presented with aniridia-related manifestations, such as aniridia-related keratopathy or partial aniridia. Congenital cataracts were the main manifestation in three of the patients in this series. All the patients had nystagmus and low visual acuity. Conclusions: The diagnosis of mild forms of aniridia is challenging, but these patients have a potentially blinding hereditary disease that might present with a more severe phenotype in future generations. Clinicians should be aware of the mild aniridia phenotype and request genetic testing to perform an accurate diagnosis.

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.

Sign in / Sign up

Export Citation Format

Share Document