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The Alport syndrome COL4A5 variant database

✍ Scribed by David K. Crockett; Genevieve Pont-Kingdon; Frederick Gedge; Kelli Sumner; Ryan Seamons; Elaine Lyon

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
146 KB
Volume
31
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form ( approximately 80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (XLAS) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5). We have developed a curated disease-specific database containing reported sequence variants in COL4A5. Currently the database archives a total of 520 sequence variants, verified for their position within the COL4A5 gene and named following standard nomenclature. Sequence variants are reported with accompanying information on protein effect, classification of mutation vs. polymorphism, mutation type based on the first description in the literature, and links to pertinent publications. In addition, features of this database include disease information, relevant links for Alport syndrome literature, reference sequence information, and ability to query by various criteria. On-line submission for novel gene variants or updating information on existing database entries is also possible. This free online scientific resource was developed with the clinical laboratory in mind to serve as a reference and repository for COL4A5 variants.

πŸ“œ SIMILAR VOLUMES

Novel COL4A5, COL4A4, and COL4A3 mutatio
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome
✍ Mato Nagel; Sylvia Nagorka; Oliver Gross πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 78 KB

This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate

Spectrum of COL4A5 mutations in Finnish
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients
✍ Paula Martin; Niina Heiskari; Heli Pajari; Carola GrΓΆnhagen-Riska; Helena KÀÀriΓ€ πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 76 KB πŸ‘ 1 views

Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen Ξ± Ξ±5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons

Detection of mutations in COL4A5 in pati
Detection of mutations in COL4A5 in patients with Alport Syndrome
✍ Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 322 KB πŸ‘ 2 views

Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation

Major COL4A5 gene rearrangements in pati
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome
✍ Renieri, Alessandra ;Galli, Lucia ;Grillo, Alessandra ;Bruttini, Mirella ;Neri, πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 698 KB

Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with Xlinked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 17

A two-tier approach to mutation detectio
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome
✍ Kathy King; Frances A. Flinter; Peter M. Green πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 84 KB

About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gen