Cargando…

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vilares-Morgado, Rodrigo, Ferreira, Ana Margarida, Santos-Silva, Renato, Quental, Rita, Carneiro, Ângela, Estrela-Silva, Sérgio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601875/ https://www.ncbi.nlm.nih.gov/pubmed/37901634 http://dx.doi.org/10.1159/000533974

Ejemplares similares

A Novel Variant in VPS13B Underlying Cohen Syndrome
por: Hussain, Abrar, et al.
Publicado: (2023)

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
por: Razavi, Alireza, et al.
Publicado: (2021)

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
por: Zorn, Malte, et al.
Publicado: (2022)

Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
por: Kang, Li, et al.
Publicado: (2023)

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
por: Rejeb, Imen, et al.
Publicado: (2017)

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
por: AbdelAleem, Alice, et al.
Publicado: (2023)

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
por: Momtazmanesh, Sara, et al.
Publicado: (2020)

A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies
por: Dehghan, Roghayeh, et al.
Publicado: (2021)

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
por: Lhussiez, Vincent, et al.
Publicado: (2020)

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
por: Zhao, Sha, et al.
Publicado: (2019)

Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing
por: Hu, Xiaoyun, et al.
Publicado: (2021)

Posterior Microphthalmos Pigmentary Retinopathy Syndrome
por: Saifuddin Adeel, Syed, et al.
Publicado: (2023)

Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
por: Lee, You-Kyung, et al.
Publicado: (2020)

Effect of Repeated Intravitreal Injections in Glaucoma Spectrum Diseases
por: Vilares-Morgado, Rodrigo, et al.
Publicado: (2023)

Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism
por: Ionita-Laza, Iuliana, et al.
Publicado: (2014)

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
por: Rafiq, Muhammad Arshad, et al.
Publicado: (2015)

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
por: Li, Liangshan, et al.
Publicado: (2021)

Unilateral pigmentary retinopathy – a review of literature and case presentation
por: Alina-Cristina, Stamate, et al.
Publicado: (2016)

Pigmentary retinopathy associated with immune therapy for advanced cutaneous melanoma
por: Lin, Andrew C., et al.
Publicado: (2023)

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
por: Gabrielle, Pierre-Henry, et al.
Publicado: (2021)

VPS13A and VPS13C Influence Lipid Droplet Abundance
por: Chen, Shuliang, et al.
Publicado: (2022)

Leonard Cohen
por: Nadel, Ira
Publicado: (1996)

Maximal Cohen-Macaulay modules over Cohen-Macaulay rings
por: Yoshino, Y
Publicado: (1990)

Pigmentary complications after non-medical male circumcision
por: Tirana, Radwa, et al.
Publicado: (2022)

Pigmentary Retinopathy and Chronic Subretinal Fluid Associated with Pseudoxanthoma Elasticum and Angioid Streaks
por: R. Starr, Matthew, et al.
Publicado: (2022)

Pentosan Polysulfate Sodium-Associated Pigmentary Retinopathy: Risk Factors and Fundus Findings
por: Leung, Ella H, et al.
Publicado: (2021)

The Pigmentary Syphiloderm
por: Atkinson, I. Edmonson
Publicado: (1878)

Laura Cohen, albercas
por: Debroise, Olivier

Cohen-Macaulay representations
por: Leuschke, Graham J, et al.
Publicado: (2012)

Lieutenant Benjamin Cohen
Publicado: (1918)

Cohen—Croup and Tracheotomy
Publicado: (1874)

Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
por: Yang, Jee Myung, et al.
Publicado: (2020)

Posterior Microphthalmos Pigmentary Retinopathy Syndrome with Angle-Closure Glaucoma: A Case Report
por: Sassi, Hela, et al.
Publicado: (2023)

VPS13 Forum Proceedings: XK, XK-Related and VPS13 Proteins in Membrane Lipid Dynamics
por: Peikert, Kevin, et al.
Publicado: (2023)

VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites
por: Kumar, Nikit, et al.
Publicado: (2018)

PIGMENTARY MOSAICISM: AN UPDATE
por: Thapa, Rajoo
Publicado: (2008)

On pseudo Cohen-Macaulay modules
por: Cuong, N T, et al.
Publicado: (2002)

Cohen’s Conservatism and Human Enhancement
por: Pugh, Jonathan, et al.
Publicado: (2013)

Cohen Syndrome: Review of the Literature
por: Rodrigues, Jonathan M, et al.
Publicado: (2018)

Response to Cohen et al
por: Bell, Rae F., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_f4uk3uaq3r47h2aiuiqpg45hk2