Cargando…

Targeted next-generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early-onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Xinhua, Lin, Ying, Chen, Chuan, Zhu, Yi, Gao, Hongbin, Li, Tao, Liu, Bingqian, Lyu, Cancan, Huang, Ying, Wu, Qingxiu, Li, Haichun, Jin, Chenjin, Liang, Xiaoling, Lu, Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2018
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108863/ https://www.ncbi.nlm.nih.gov/pubmed/30015854 http://dx.doi.org/10.3892/ijmm.2018.3752

Ejemplares similares

Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
por: Lin, Ying, et al.
Publicado: (2018)

Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma
por: Li, Tao, et al.
Publicado: (2017)

Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy
por: Lin, Ying, et al.
Publicado: (2018)

Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients
por: Lin, Ying, et al.
Publicado: (2021)

Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome
por: Öztürk, Caner, et al.
Publicado: (2018)

Genetic variations in Bestrophin-1 and associated clinical findings in two Chinese patients with juvenile-onset and adult-onset best vitelliform macular dystrophy
por: Lin, Ying, et al.
Publicado: (2018)

Trampoline Use and Retinal Detachment in Stickler Syndrome
por: Moloney, Thomas P., et al.
Publicado: (2022)

The Combination of Ketorolac with Local Anesthesia for Pain Control in Day Care Retinal Detachment Surgery: A Randomized Controlled Trial
por: Chen, Xiaohong, et al.
Publicado: (2017)

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment
por: Huang, Li, et al.
Publicado: (2020)

FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome
por: Lin, Ying, et al.
Publicado: (2017)

COMPARISON BETWEEN RELEASABLE SCLERAL BUCKLING AND VITRECTOMY IN PATIENTS WITH PHAKIC PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT
por: Zhao, Xiujuan, et al.
Publicado: (2020)

Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome
por: Ebert, Jared J., et al.
Publicado: (2019)

Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome
por: Reddy, Devasis N, et al.
Publicado: (2016)

Preventing Retinal Detachment: Where are We? Implications from Stickler Syndrome
por: Morris, Robert E, et al.
Publicado: (2022)

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome
por: Wang, Xun, et al.
Publicado: (2016)

Retro-orbital injection of FITC-dextran combined with isolectin B4 in assessing the retinal neovascularization defect
por: Li, Jizhu, et al.
Publicado: (2021)

Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation
por: Navarrete, Ana, et al.
Publicado: (2020)

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
por: Guo, Long, et al.
Publicado: (2017)

Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
por: Zhou, Lin, et al.
Publicado: (2018)

Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome
por: Kondo, Hiroyuki, et al.
Publicado: (2016)

Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia
por: Alshahrani, Saeed T, et al.
Publicado: (2015)

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)
por: Morris, Robert E, et al.
Publicado: (2021)

Comparison of macular buckling and vitrectomy for the treatment of macular schisis and associated macular detachment in high myopia: a randomized clinical trial
por: Liu, Bingqian, et al.
Publicado: (2019)

Stickler syndrome
por: Rishi, Pukhraj, et al.
Publicado: (2015)

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome
por: Kohmoto, Tomohiro, et al.
Publicado: (2016)

A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
por: Kohmoto, Tomohiro, et al.
Publicado: (2015)

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy
por: Lin, Ying, et al.
Publicado: (2017)

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
por: Su, Ying, et al.
Publicado: (2023)

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
por: Rad, Aboulfazl, et al.
Publicado: (2022)

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients
por: Lin, Ying, et al.
Publicado: (2017)

Dominant Stickler Syndrome
por: Soh, Zack, et al.
Publicado: (2022)

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings
por: Kimura, Daisaku, et al.
Publicado: (2018)

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
por: Brizola, Evelise, et al.
Publicado: (2020)

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
por: Wu, Hong, et al.
Publicado: (2021)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Prevention of Blindness in Stickler Syndrome
por: Alexander, Philip, et al.
Publicado: (2022)

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
por: Micale, Lucia, et al.
Publicado: (2020)

Novel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in three Generations of a Bulgarian Family
por: Mladenova, M, et al.
Publicado: (2021)

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I
por: Liu, Xiuzhen, et al.
Publicado: (2022)

Mutation survey in Taiwanese patients with Stickler syndrome
por: Huang, Faye, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_357fkbc5bns21nakoko9s0h92q