Cargando…

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these conditions on the patient’s phenotype. The investigation involved comprehensive pediatric and ophthalmological examinatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu., Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10650867/ https://www.ncbi.nlm.nih.gov/pubmed/37958513 http://dx.doi.org/10.3390/ijms242115527

Ejemplares similares

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome
por: Vasilyeva, Tatyana A., et al.
Publicado: (2020)

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
por: Vasilyeva, Tatyana A., et al.
Publicado: (2022)

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
por: Vasilyeva, Tatyana A., et al.
Publicado: (2020)

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania
por: Petrova, Nika, et al.
Publicado: (2023)

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2021)

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2022)

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
por: Marakhonov, Andrey V., et al.
Publicado: (2018)

A nonsense PAX6 mutation in a family with congenital aniridia
por: Han, Kyoung Hee, et al.
Publicado: (2016)

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population
por: Kadyshev, Vitaly V., et al.
Publicado: (2023)

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
por: Marakhonov, Andrey V., et al.
Publicado: (2020)

Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia
por: Wang, Xia, et al.
Publicado: (2017)

PAX6 disease models for aniridia
por: Abdolkarimi, Dorsa, et al.
Publicado: (2022)

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia
por: Liu, Xiaoliang, et al.
Publicado: (2020)

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
por: Marakhonov, Andrey V., et al.
Publicado: (2020)

PAX6 aniridia and interhemispheric brain anomalies
por: Abouzeid, Hana, et al.
Publicado: (2009)

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation
por: Petrova, Nika, et al.
Publicado: (2021)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

Novel PAX6 mutation reported in an aniridia patient
por: Winegarner, Andrew, et al.
Publicado: (2017)

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs
por: Lima Cunha, Dulce, et al.
Publicado: (2023)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
por: Zinchenko, Rena A., et al.
Publicado: (2020)

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
por: Brémond-Gignac, Dominique, et al.
Publicado: (2010)

PAX6 gene variations associated with aniridia in south India
por: Neethirajan, Guruswamy, et al.
Publicado: (2004)

Genotype–phenotype correlation of PAX6 gene mutations in aniridia
por: Yokoi, Tadashi, et al.
Publicado: (2016)

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia
por: Pedersen, Hilde R., et al.
Publicado: (2020)

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
por: Petrova, Nika V., et al.
Publicado: (2022)

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians
por: Makretskaya, Nina, et al.
Publicado: (2023)

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
por: Petrova, Nika V., et al.
Publicado: (2021)

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
por: Ansari, Morad, et al.
Publicado: (2016)

Novel clinical presentation and PAX6 mutation in families with congenital aniridia
por: Guo, Ruru, et al.
Publicado: (2022)

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family
por: Palayil, Isham, et al.
Publicado: (2018)

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
por: Neethirajan, Guruswamy, et al.
Publicado: (2006)

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
por: Aggarwal, Shagun, et al.
Publicado: (2011)

A novel PAX6 deletion in a Chinese family with congenital aniridia
por: Chen, Jian Huan, et al.
Publicado: (2012)

Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China
por: Kang, Yang, et al.
Publicado: (2012)

PAX6, brain structure and function in human adults: advanced MRI in aniridia
por: Yogarajah, Mahinda, et al.
Publicado: (2016)

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
por: Chograni, Manèl, et al.
Publicado: (2014)

Identification of a novel PAX6 mutation in a Chinese family with aniridia
por: Qiu, Jing-Jing, et al.
Publicado: (2019)

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia
por: You, Bing, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_6v9g701l4gtldm02pu71jetual