Cargando…

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP). METHODS: Clinical evaluation of the family members included measuring visual acuity and fundos...

Descripción completa

Detalles Bibliográficos
Autores principales:	Siemiatkowska, Anna M., Astuti, Galuh D.N., Arimadyo, Kentar, den Hollander, Anneke I., Faradz, Sultana M.H., Cremers, Frans P.M., Collin, Rob W.J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472925/ https://www.ncbi.nlm.nih.gov/pubmed/23077400

Ejemplares similares

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
por: Siemiatkowska, Anna M., et al.
Publicado: (2011)

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa
por: Khan, Muhammad Imran, et al.
Publicado: (2010)

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen
por: Paun, Codrut C., et al.
Publicado: (2012)

OR11-002 - Mutations in MVK cause non-syndromic RP
por: Siemiatkowska, AM, et al.
Publicado: (2013)

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

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype
por: Liu, Qin, et al.
Publicado: (2012)

Next-generation genetic testing for retinitis pigmentosa
por: Neveling, Kornelia, et al.
Publicado: (2012)

CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
por: Afanasyeva, Tess A.V., et al.
Publicado: (2023)

Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians
por: Juniarto, Achmad Zulfa, et al.
Publicado: (2018)

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
por: Ajmal, Muhammad, et al.
Publicado: (2012)

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
por: Azam, Maleeha, et al.
Publicado: (2009)

Gender change and stigmatization in late-treated Indonesian children, adolescent, and adult patients with DSD
por: Ediati, Annastasia, et al.
Publicado: (2015)

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)

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
por: Collin, Rob WJ, et al.
Publicado: (2012)

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

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

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India
por: Goyal, Shiwali, et al.
Publicado: (2023)

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)

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
por: Roosing, Susanne, et al.
Publicado: (2017)

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient
por: Mundhofir, Farmaditya E. P., et al.
Publicado: (2012)

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

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family
por: Azam, Maleeha, et al.
Publicado: (2009)

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report
por: Yuniati, Renni, et al.
Publicado: (2022)

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
por: Cremers, Frans P.M., et al.
Publicado: (2020)

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

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
por: Ávila-Fernández, Almudena, et al.
Publicado: (2010)

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
por: Ayers, Katie L., et al.
Publicado: (2017)

Common and rare variants in patients with early onset drusen maculopathy
por: de Breuk, Anita, et al.
Publicado: (2022)

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

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
por: Haer-Wigman, Lonneke, et al.
Publicado: (2015)

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family
por: Zobor, Ditta, et al.
Publicado: (2014)

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)

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
por: Wilkie, Susan E., et al.
Publicado: (2008)

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

SCHIZOPHRENIA ASSOCIATED WITH RETINITIS PIGMENTOSA : A CASE REPORT
por: Shukla, G.D., et al.
Publicado: (1983)

SOCIAL PARTICIPATION AND GENDER DISPARITY ON DEPRESSIVE SYMPTOMS AMONG INDONESIAN ELDERLY
por: Astuti, Riska D, et al.
Publicado: (2019)

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families
por: Ajmal, Muhammad, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_446peh574v7elk3ik8f7pdlnu9