title: Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.
abstract: We describe a novel mutational study in 2 African American siblings with autosomal recessive Alport syndrome. Both siblings were compound heterozygotes for 2 abnormal DNA sequences in exon 49 of the COL4A3 gene, p.Arg1496X (CGA-->TGA) and p.Arg1516X (CGA-->TGA). These are nonsense mutations in the noncollagenous domain resulting in premature termination codons and have not been previously reported. In an African American population in which autosomal recessive Alport syndrome is rarely seen, complete sequencing of the COL4A3 and COL4A4 genes may be necessary to identify the underlying mutation and confirm the diagnosis.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Cook
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Friedrich
authors.forename: Radhakrishna
authors.initials: R
authors.lastname: Baliga
mesh_terms: D000293:Adolescent; D001741:Black or African American; D001324:Autoantigens / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009394:Nephritis, Hereditary / Q000208:ethnology / Q000235:genetics*
chemical_list: D001324:Autoantigens; D018389:Codon, Nonsense; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain