Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.

Ophthalmic genetics - 1 Feb 2022

Chen Bin-Bin, Zhai Yi, Huo Ya-Nan, Yang Shuo, Zhang Zhi-Yong

Abstract excerpt

BACKGROUND: This study aims to identify the underlying genetic cause of a Chinese patient with Leber congenital amaurosis (LCA). METHODS: Detailed clinical data and family history were collected. A medical diagnostic panel sequencing covering 4450 genes was conducted. Two candidate disease-causing mutations detected in CEP290 were then validated with Sanger sequencing and bioinformatic analysis. Reverse...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Antigens, Neoplasm
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to DNA, Complementary

Share to DNA Mutational Analysis

Share to Leber Congenital Amaurosis

Share to Pedigree

Share to RNA, Messenger

Source

Identifiers

PMID: 34809537
DOI: 10.1080/13816810.2021.2004431

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.PMID 34809537Read ↗

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.Semantic proximity Read ↗

CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.Semantic proximity Read ↗

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Semantic proximity Read ↗

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.Semantic proximity Read ↗

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).Semantic proximity Read ↗

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.Semantic proximity Read ↗

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.Semantic proximity Read ↗

The role of alternative splicing in CEP290-related disease pathogenesisSemantic proximity Read ↗

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.Semantic proximity Read ↗

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Semantic proximity Read ↗

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.Semantic proximity Read ↗

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.