Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

Renieri, Alessandra; Galli, Lucia; Marchi, Mario; Volti, S. Li; Mollica, F; Lupo, A.; Maschio, Giuseppe; Peissel, Bernard; Rossetti, Sandro; Pignatti, Pier Franco

doi:10.1093/hmg/3.1.201

Cited by 8 publications

(3 citation statements)

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“…The 5' ends of these two genes are separated by only 452 bp. Several types of mutations in the COL4A5 gene, including both intragenic deletions and single base substitutions, have been reported in patients with AS (Renieri et al, 1992(Renieri et al, , 1993(Renieri et al, , 1994Zhou et al, 1992;Tryggvason et al, 1993).…”

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confidence: 99%

Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

et al. 1994

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Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene. The association of AS with diffuse leiomyomatosis, a benign proliferation of smooth muscle that occurs most often in the esophagus, trachea, and female genitalia, has been reported. Recently, a deletion involving both the COL4A5 and COL4A6 genes has been reported in four unrelated families. We report an additional case with Alport's syndrome associated with leiomyomatosis carrying a deletion of both COL4A5 and COL4A6 genes. A detailed characterization of the genomic region involved in the deletion event has been performed. Our results demonstrate that the deletion removed exon 1 of COL4A5 and exons 1 and 2 of COL4A6.

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confidence: 99%

Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

et al. 1994

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“…SSCP analysis SSCP analysis on patient DNA was performed as described by Orita et al (1989) and adapted for use of non-radioactive samples (Renieri et al 1994) using the primers and conditions given in Table 1.…”

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confidence: 99%

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

et al. 1997

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X-linked juvenile retinoschisis (RS) is a progressive vitreoretinal degeneration localised in Xp22.1-p22.2. A human homologue of the retinal degeneration gene C (rdgC), a gene that in Drosophila melanogaster prevents light-induced retinal degeneration, was localised in the RS obligate gene region. We have tested the gene, designated PPEF in humans, as a candidate gene in RS patients using RT-PCR and the protein truncation test on RNA and SSCP on DNA. No mutations were identified, making it highly unlikely that PPEF is the gene implicated in RS. The data presented facilitate mutation analysis of the PPEF gene in other diseases which have been or will be localised to this region.

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“…On the other hand, the accumulated data seem to indicate earlier progression to ESRD for patients carrying large deletions or frameshift mutations affecting the NC1 domain (Peissel et a]. 1994, Renieri et al 1994b). The finding that slower progression towards ESRD could be predicted for AS patients with COL4A5 missense substitutions gives some indications on the essential roles played by the integrity of a 5 (IV) in the normal glomerular functions.…”

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A novel missense mutation in exon 3 of the COL4A5 gene associated with late‐onset Alport syndrome

Rossetti

Mo³

et al. 1995

Clinical Genetics

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We have identified a novel missense transition (362G→A) in exon 3 of the COL4A5 gene in a male patient with late‐onset Alport syndrome. We used non‐isotopic single strand conformation polymorphism, heteroduplex analysis, and automated DNA sequencing. The mutation changes a conserved glycine at codon 54 for an aspartic acid (Gly54Asp), which abolishes a BstNI site. Using restriction analysis, we identified the heterozygous carrier status in the two daughters of the proband. Our findings are in keeping with the hypothesis that slower progressive forms of Alport syndrome are more often associated with missense mutations rather than large deletions or frameshifts. This is the first mutation described in the N‐terminus triple helical 7S domain of the COL4A5 gene in an Alport syndrome patient.

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Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

Cited by 8 publications

References 0 publications

Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

A novel missense mutation in exon 3 of the COL4A5 gene associated with late‐onset Alport syndrome

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