Cargando…

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

BACKGROUND: Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. RESULTS: In this study, we performed clinical examination and subsequent genetic analysis in two unrelated sporadic cases of different geographical ori...

Descripción completa

Detalles Bibliográficos
Autores principales:	Marakhonov, Andrey V., Voskresenskaya, Anna A., Ballesta, Maria Jose, Konovalov, Fedor A., Vasilyeva, Tatyana A., Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A., Kadyshev, Vitaly V., López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A., Corton, Marta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427288/ https://www.ncbi.nlm.nih.gov/pubmed/32791987 http://dx.doi.org/10.1186/s13023-020-01484-8

Ejemplares similares

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)

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)

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

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)

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)

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)

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
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)

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)

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)

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)

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

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)

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)

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
por: Marakhonov, Andrey V., et al.
Publicado: (2021)

Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population
por: Jarwar, Priya, et al.
Publicado: (2022)

CRYAA and GJA8 promote visual development after whisker tactile deprivation
por: Zhang, Shibo, et al.
Publicado: (2023)

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020)

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020)

Correlations of single nucleotide polymorphisms of CRYAA and CRYAB genes with the risk and clinicopathological features of children suffering from congenital cataract
por: Cui, Xian-Jin, et al.
Publicado: (2017)

Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
por: Santana, Alessandro, et al.
Publicado: (2009)

A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family
por: Su, Dongmei, et al.
Publicado: (2012)

A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
por: Song, Zixun, et al.
Publicado: (2018)

Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
por: Zhang, Lu, et al.
Publicado: (2011)

Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter
por: Ma, Xiaoyin, et al.
Publicado: (2016)

Evaluation of orphan diseases global burden
por: Makarova, Ekaterina V, et al.
Publicado: (2021)

Transcriptional regulation of mouse alpha A-crystallin gene in a 148kb Cryaa BAC and its derivates
por: Wolf, Louise, et al.
Publicado: (2008)

Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model
por: Jia, Zhe-Kun, et al.
Publicado: (2021)

Segmental Spinal Dysgenesis
por: Knafl, Emily, et al.
Publicado: (2020)

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

CpG site methylation in CRYAA promoter affect transcription factor Sp1 binding in human lens epithelial cells
por: Liu, Xin, et al.
Publicado: (2016)

Symptomatic Infundibulopelvic Dysgenesis in an Adolescent
por: Pitts, Daniel, et al.
Publicado: (2015)

Segmental Spinal Dysgenesis–“Redefined”
por: Chellathurai, Amarnath, et al.
Publicado: (2019)

Sexual development dysgenesis in interspecific hybrids of Medaka fish
por: Martinez-Bengochea, A. L., et al.
Publicado: (2022)

Searching for signatures of positive selection in cytochrome b gene associated with subterranean lifestyle in fast-evolving arvicolines (Arvicolinae, Cricetidae, Rodentia)
por: Bondareva, Olga V., et al.
Publicado: (2021)

Hemoptysis: A Rare Presentation of Mixed Gonadal Dysgenesis
por: Das, Darvin V., et al.
Publicado: (2020)

Expression of αA-crystallin (CRYAA) in vivo and in vitro models of age-related cataract and the effect of its silencing on HLEB3 cells
por: Ma, Xiaoling, et al.
Publicado: (2023)

Atypical Mixed Variant of Pericallosal Lipoma With Splenial Dysgenesis
por: Al-Hameed, Mohammed, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_uf6jgbub53mbudtm3u93bd98mf