Abstract:
BACKGROUND:X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the type IV collagen alpha chain 5 gene (COL4A5). Although many COL4A5 mutations have previously been identified, pathogenic synonymous mutations have not yet been described. METHODS:A family with XLAS underwent mutational analyses of COL4A5 by PCR and direct sequencing, as well as transcript analysis of potential splice site mutations. In silico analysis was also conducted to predict the disruption of splicing factor binding sites. Immunohistochemistry (IHC) of kidney biopsies was used to detect α2 and α5 chain expression. RESULTS:We identified a hemizygous point mutation, c.876A>T, in exon 15 of COL4A5 in the proband and his brother, which is predicted to result in a synonymous amino acid change, p.(Gly292Gly). Transcript analysis showed that this mutation potentially altered splicing because it disrupted the splicing factor binding site. The kidney biopsy of the proband showed lamellation of the glomerular basement membrane (GBM), while IHC revealed negative α5(IV) staining in the GBM and Bowman's capsule, which is typical of XLAS. CONCLUSIONS:This is the first report of a synonymous COL4A5 substitution being responsible for XLAS. Our findings suggest that transcript analysis should be conducted for the future correct assessment of silent mutations.
journal_name
Clin Exp Nephroljournal_title
Clinical and experimental nephrologyauthors
Fu XJ,Nozu K,Eguchi A,Nozu Y,Morisada N,Shono A,Taniguchi-Ikeda M,Shima Y,Nakanishi K,Vorechovsky I,Iijima Kdoi
10.1007/s10157-015-1197-9subject
Has Abstractpub_date
2016-10-01 00:00:00pages
699-702issue
5eissn
1342-1751issn
1437-7799pii
10.1007/s10157-015-1197-9journal_volume
20pub_type
杂志文章abstract:BACKGROUND:Acute renal infarction (ARI) is a rare disease with atrial fibrillation being its main cause. The possible laterality of ARI is controversial. This study aimed to evaluate the association between anatomical features of the renal arteries and ARI. METHODS:This was a single-center cross-sectional study that e...
journal_title:Clinical and experimental nephrology
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pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2014-10-01 00:00:00
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更新日期:2014-02-01 00:00:00
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更新日期:2012-02-01 00:00:00
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更新日期:2011-12-01 00:00:00
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