Cargando…

Novel mutation identified in Leber congenital amaurosis - a case report

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic heterogeneity. Recently, 14 causative genes of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sato, Shigeru, Morimoto, Takeshi, Tanaka, Sayaka, Hotta, Kikuko, Fujikado, Takashi, Tsujikawa, Motokazu, Nishida, Kohji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393846/ https://www.ncbi.nlm.nih.gov/pubmed/32736544 http://dx.doi.org/10.1186/s12886-020-01577-9

Ejemplares similares

A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
por: Sato, Shigeru, et al.
Publicado: (2019)

Extensive Macular Atrophy with Pseudodrusen in a Japanese Patient Evaluated by Wide-Field OCTA
por: Sato, Shigeru, et al.
Publicado: (2022)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
por: Hosono, Katsuhiro, et al.
Publicado: (2015)

NMNAT1 mutations cause Leber congenital amaurosis
por: Falk, Marni J, et al.
Publicado: (2012)

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1
por: Soens, Zachry T., et al.
Publicado: (2016)

Molecular characterization of Leber congenital amaurosis in Koreans
por: Seong, Moon-Woo, et al.
Publicado: (2008)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

The genetic profile of Leber congenital amaurosis in an Australian cohort
por: Thompson, Jennifer A., et al.
Publicado: (2017)

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
por: Cideciyan, Artur V., et al.
Publicado: (2019)

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability
por: Minegishi, Yuriko, et al.
Publicado: (2016)

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
por: Srikrupa, Natarajan N., et al.
Publicado: (2021)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2020)

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
por: Han, Jinu, et al.
Publicado: (2017)

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
por: Uyhazi, Katherine E., et al.
Publicado: (2020)

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations
por: Huang, Chu-Hsuan, et al.
Publicado: (2021)

A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype
por: Aldahmesh, Mohammed A., et al.
Publicado: (2010)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
por: Khan, Shaheryar Ahmed, et al.
Publicado: (2019)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
por: Melillo, Paolo, et al.
Publicado: (2012)

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
por: Weisschuh, Nicole, et al.
Publicado: (2018)

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
por: Berger, Silke, et al.
Publicado: (2023)

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
por: Hosono, Katsuhiro, et al.
Publicado: (2018)

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
por: Ahmad, Adeel, et al.
Publicado: (2011)

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing
por: Imani, Saber, et al.
Publicado: (2017)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India
por: Sundaresan, Periasamy, et al.
Publicado: (2009)

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
por: Ragi, Sara D., et al.
Publicado: (2019)

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
por: Ramprasad, Vedam Lakshmi, et al.
Publicado: (2008)

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro
por: Mo, Guoyan, et al.
Publicado: (2014)

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred
por: Gradstein, Libe, et al.
Publicado: (2016)

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS
por: Feng, Xue, et al.
Publicado: (2020)

fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis
por: Ashtari, Manzar, et al.
Publicado: (2014)

Ultra wide field imaging of coats like response in Leber’s congenital amaurosis
por: Kumar, Vinod, et al.
Publicado: (2017)

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
por: Surl, Dongheon, et al.
Publicado: (2020)

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
por: Padhy, Srikanta Kumar, et al.
Publicado: (2020)

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis
por: O'Connor, Keli, et al.
Publicado: (2022)

RNA-based therapies in animal models of Leber congenital amaurosis causing blindness
por: Wang, Xia, et al.
Publicado: (2020)

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis
por: Bustamante-Aragones, Ana, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_10j4fpifb83epgl76mt4ciaeel