Cargando…

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India

OBJECTIVE: This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia. METHODS: Whole-exome sequencing (WES) was performed on the DNA of the proband...

Descripción completa

Detalles Bibliográficos
Autores principales:	Goyal, Shiwali, Singh, Kabir, Uppal, Aashna, Vanita, Vanita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10173570/ https://www.ncbi.nlm.nih.gov/pubmed/37170250 http://dx.doi.org/10.1186/s12886-023-02936-y

Ejemplares similares

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree
por: Wei, Chunli, et al.
Publicado: (2020)

Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
por: Vanita, Vanita, et al.
Publicado: (2022)

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
por: Reurink, Janine, et al.
Publicado: (2021)

Genetics of diabetes
por: Goyal, Shiwali, et al.
Publicado: (2023)

Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family
por: Berry, Vanita, et al.
Publicado: (2023)

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
por: Siemiatkowska, Anna M., et al.
Publicado: (2012)

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin
por: Ravesh, Zeinab, et al.
Publicado: (2015)

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
por: Nadeem, Raheela, et al.
Publicado: (2020)

Differential pattern of RP1 mutations in retinitis pigmentosa
por: Zhang, Xin, et al.
Publicado: (2010)

Retinitis Pigmentosa Due to Rp1 Biallelic Variants
por: Silva, Rita Sousa, et al.
Publicado: (2020)

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia
por: Parmeggiani, Francesco, et al.
Publicado: (2016)

Cataract surgery in retinitis pigmentosa
por: Chatterjee, Samrat, et al.
Publicado: (2021)

Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract
por: Vanita, Vanita, et al.
Publicado: (2009)

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
por: Kabir, Firoz, et al.
Publicado: (2016)

Combined cataract extraction with a new nonvalved glaucoma drainage device in adult eyes with cataract and refractory glaucoma
por: Rao, Divya P, et al.
Publicado: (2018)

Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns
por: Kortuem, Friederike C., et al.
Publicado: (2022)

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene
por: Guleria, Kamlesh, et al.
Publicado: (2007)

Investigation of the $^{37}$Ar(n , p) $^{37}\!$Cl, $^{37}$Ar(n , $\alpha)^{34}\!$S and $^{39}$Ar(n , $\alpha) ^{36}$S reactions at various stellar temperatures
por: Goeminne, G, et al.
Publicado: (2001)

Solar neutrino detection by the Cl37-Ar37 method
por: Davis, R Jr, et al.
Publicado: (1965)

Commentary: Cataract surgery in retinitis pigmentosa
por: Pandey, Suresh K, et al.
Publicado: (2021)

Commentary: Cataract surgery in retinitis pigmentosa
por: Sahay, Pranita, et al.
Publicado: (2021)

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
por: Vanita, Vanita, et al.
Publicado: (2008)

Asymmetry of the internal bremsstrahlung of $^{37}$Ar
por: Vanhaverbeke, J, et al.
Publicado: (1988)

Retinitis Pigmentosa (RP): The Role of Oxidative Stress in the Degenerative Process Progression
por: Vingolo, Enzo M., et al.
Publicado: (2022)

A Review of Complicated Cataract in Retinitis Pigmentosa: Pathogenesis and Cataract Surgery
por: Hong, Yingying, et al.
Publicado: (2020)

A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin
por: Vanita, Vanita, et al.
Publicado: (2008)

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY
por: Raparia, Eva, et al.
Publicado: (2023)

Distinct macular thickness changes after femtosecond laser–assisted cataract surgery of age-related cataract and myopia with cataract
por: Wang, Yong, et al.
Publicado: (2018)

Cyst in the Vitreous and Posterior Polar Cataract in Retinitis Pigmentosa
por: Falcone, G.
Publicado: (1946)

Effects and Prognosis of Cataract Surgery in Patients with Retinitis Pigmentosa
por: He, Hailong, et al.
Publicado: (2022)

Cataract surgery in patients with retinitis pigmentosa: systematic review
por: Khojasteh, Hassan, et al.
Publicado: (2023)

Retinitis pigmentosa sine pigmento masqueraded as myopia: A case report (CARE)
por: Lu, Yi, et al.
Publicado: (2021)

The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD)
por: Stockklausner, Clemens, et al.
Publicado: (2006)

The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins
por: Schwarz, N, et al.
Publicado: (2012)

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
por: Jiang, Jingjing, et al.
Publicado: (2017)

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
por: Lane, Amelia, et al.
Publicado: (2020)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
por: Huang, Yukan, et al.
Publicado: (2010)

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Liu, Wei, et al.
Publicado: (2021)

Posterior Corneal Characteristics of Cataract Patients with High Myopia
por: Jing, Qinghe, et al.
Publicado: (2016)

Amoeboid pattern of posterior subcapsular cataract – Novel morphology in retinitis pigmentosa!
por: Shah, Shalin, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7eb8js9ike9vd46hhqrtvi3cni