Cargando…

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bae, Kunho, Song, Ju Sun, Lee, Chung, Kim, Nayoung K.D., Park, Woong-Yang, Kim, Byoung Joon, Ki, Chang-Seok, Kim, Sang Jin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500744/ https://www.ncbi.nlm.nih.gov/pubmed/28643494 http://dx.doi.org/10.3343/alm.2017.37.5.438

Ejemplares similares

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
por: da Palma, Mariana Matioli, et al.
Publicado: (2020)

Novel CHM mutations identified in Chinese families with Choroideremia
por: Cai, Xue-Bi, et al.
Publicado: (2016)

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype
por: Simunovic, Matthew P., et al.
Publicado: (2016)

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
por: McLaren, Terri L., et al.
Publicado: (2020)

In silico data analyses of the hotspot mutations of CHM gene in choroideremia disease
por: Imani, Saber, et al.
Publicado: (2018)

Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia
por: Toualbi, Lyes, et al.
Publicado: (2023)

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient
por: Fioretti, Tiziana, et al.
Publicado: (2020)

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
por: Skorczyk-Werner, Anna, et al.
Publicado: (2018)

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription
por: Fioretti, Tiziana, et al.
Publicado: (2021)

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
por: Yang, Lisha, et al.
Publicado: (2017)

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families
por: Hayashi, Takaaki, et al.
Publicado: (2020)

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
por: Di Giosaffatte, Niccolò, et al.
Publicado: (2022)

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
por: Guo, Hui, et al.
Publicado: (2015)

Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy
por: Kim, Jong Min, et al.
Publicado: (2017)

Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
por: Shin, Dong Hoon, et al.
Publicado: (2020)

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia
por: Dan, Handong, et al.
Publicado: (2020)

Clinical and Genetic Findings in Korean Patients with Choroideremia
por: Jo, Woo Gyeong, et al.
Publicado: (2023)

A Case Study of Choroideremia and Choroideremia Carrier
por: Pidro, Ajla, et al.
Publicado: (2019)

Rac1 Is Required for Pathogenicity and Chm1-Dependent Conidiogenesis in Rice Fungal Pathogen Magnaporthe grisea
por: Chen, Jisheng, et al.
Publicado: (2008)

Molecular Therapies for Choroideremia
por: Cehajic Kapetanovic, Jasmina, et al.
Publicado: (2019)

Choroideremia Gene Therapy
por: Lam, Byron L., et al.
Publicado: (2021)

Choroideremia: The Endpoint Endgame
por: Abdalla Elsayed, Maram E. A., et al.
Publicado: (2023)

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia
por: Lin, Ying, et al.
Publicado: (2011)

Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
por: Kim, Jin Ha, et al.
Publicado: (2021)

Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications
por: Chang, Mun Young, et al.
Publicado: (2015)

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome
por: Kim, Je Yeon, et al.
Publicado: (2018)

Angiographic Subtypes of Neovascular Age-related Macular Degeneration in Korean: A New Diagnostic Challenge
por: Bae, Kunho, et al.
Publicado: (2019)

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing
por: Chang, Mun Young, et al.
Publicado: (2015)

Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population
por: Kang, Chul-Hoo, et al.
Publicado: (2021)

Molecular genetic diagnostic techniques in choroideremia
por: Furgoch, Mira J.B., et al.
Publicado: (2014)

Recent advances and future prospects in choroideremia
por: Zinkernagel, Martin S, et al.
Publicado: (2015)

Multimodal Imaging of Photoreceptor Structure in Choroideremia
por: Sun, Lynn W., et al.
Publicado: (2016)

Multimodal imaging in a case of choroideremia
por: Goel, Sugandha, et al.
Publicado: (2019)

Choroideremia associated with an X-autosomal translocation
por: Siu, Victoria M., et al.
Publicado: (1990)

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
por: Yoon, Je Moon, et al.
Publicado: (2016)

Are Michigan State University medical school (MSU-CHM) alumni more likely to practice in the region of their graduate medical education primary care program compared to non-MSU-CHM alumni?
por: Switzer, Richard, et al.
Publicado: (2018)

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
por: Song, Ju Sun, et al.
Publicado: (2015)

Choroideremia: Update On Clinical Features And Emerging Treatments
por: Brambati, Maria, et al.
Publicado: (2019)

An In Silica Model for RPE Loss Patterns in Choroideremia
por: Young, Benjamin K., et al.
Publicado: (2021)

Genomic Analysis of Korean Patient With Microcephaly
por: Lee, Jiwon, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_h0usuhhdvoepfr7ilipsv6kf30