RGD Reference Report - Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. - Rat Genome Database

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Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Authors: Lemmink, HH  Mochizuki, T  Van den Heuvel, LP  Schroder, CH  Barrientos, A  Monnens, LA  Van Oost, BA  Brunner, HG  Reeders, ST  Smeets, HJ 
Citation: Lemmink HH, etal., Hum Mol Genet. 1994 Aug;3(8):1269-73.
RGD ID: 1600924
Pubmed: PMID:7987301   (View Abstract at PubMed)

A group of 22 unrelated patients with sporadic or non-X-linked Alport syndrome were screened for mutations in the non-collagenous domain of the type IV collagen alpha 3 (COL4A3) chain gene. The five 3'-exons of this gene, located on chromosome 2qter, were tested by single strand conformation polymorphism analysis and direct sequencing. One patient was heterozygous and another homozygous (Mochizuki et al., Nature Genetics, in press) for a deletion of five nucleotides. A third patient appeared to be a compound heterozygote for two different nonsense mutations. In two patients and the father of a deceased patient we found a heterozygous substitution of an evolutionary conserved leucine by proline. However, segregation data of the mutation and a COL4A3/COL4A4 CA-repeat marker in their families argued against a causative role of the missense mutation. Even drastic changes of strongly conserved amino acids, as in the Leu36Pro case, may not be significant. Autosomal recessive inheritance due to pathogenic COL4A3 mutations accounts for at least 13% of Alport syndrome cases in this sample. It is concluded that COL4A3 is a major gene in the genetically and clinically heterogeneous Alport syndrome.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alport syndrome susceptibilityIAGP 1600924DNA:deletion and nonsense mutationsRGD 
Alport syndrome susceptibilityISOCOL4A3 (Homo sapiens)1600924; 1600924DNA:deletion and nonsense mutationsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Col4a3  (collagen type IV alpha 3 chain)

Genes (Mus musculus)
Col4a3  (collagen, type IV, alpha 3)

Genes (Homo sapiens)
COL4A3  (collagen type IV alpha 3 chain)


Additional Information