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 case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.

CEN case reports - 1 Nov 2020

Aoto Yuya, Kise Tomoo, Nakanishi Koichi, Nagano China, Horinouchi Tomoko, Yamamura Tomohiko, Ishiko Shinya, Sakakibara Nana, Shima Yuko, Morisada Naoya, Iijima Kazumoto, Nozu Kandai

Abstract excerpt

X-linked Alport syndrome (XLAS) is a progressive hereditary kidney disease caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. To date, 11 cases having somatic mosaic variants in COL4A5 have been reported; however, all of them involved single-nucleotide variations (SNVs). Here, we report a female XLAS patient with somatic mosaicism identified by copy number variation (CNV) in COL4A5....

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type IV
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genetic Counseling

Share to Germ Cells

Share to Mosaicism

Share to Multiplex Polymerase Chain Reaction

Share to Nephritis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 32621070
DOI: 10.1007/s13730-020-00503-8
PMCID: PMC7502112

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.PMID 32621070Read ↗

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.Semantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

Female X-linked Alport syndrome with somatic mosaicism.Semantic proximity Read ↗

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.Semantic proximity Read ↗

Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.Semantic proximity Read ↗

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.Semantic proximity Read ↗

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.Semantic proximity Read ↗

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.Semantic proximity Read ↗

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.Semantic proximity Read ↗

A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.Semantic proximity Read ↗

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.Semantic proximity Read ↗

Alport syndrome. Molecular genetic aspects.Semantic proximity Read ↗

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