Abstract
Before the advent of direct molecular gene analysis the diagnosis of Alport syndrome was operationally based on three of the four classical clinical criteria. Recently, mutations have been identified in the COL4A5 gene, which is involved in X-linked Alport syndrome. Here we describe two de-novo mutations in two unrelated children, a male and a female, both with early onset of the nephropathy, but with only one of the diagnostic criteria, i.e. electron-microscopy alterations. Because of the significant estimated proportion of de-novo mutations this diagnosis should be considered in children with early signs of nephropathy, even without a suggestive family history or clinical picture (ocular or audiologic abnormalities). In the future the diagnosis of Alport syndrome will probably be made on the basis of both clinical findings and molecular analysis. Now Alport syndrome is clearly underdiagnosed.
| Original language | English |
|---|---|
| Pages (from-to) | 1408-1411 |
| Number of pages | 4 |
| Journal | Nephrology Dialysis Transplantation |
| Volume | 9 |
| Issue number | 10 |
| Publication status | Published - 1994 |
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Keywords
- Alport syndrome
- Hereditary nephritis
ASJC Scopus subject areas
- Nephrology
- Transplantation
Cite this
De-novo COL4A5 gene mutations in Alport's syndrome. / Massella, L.; Rizzoni, G.; De Blasis, R.; Barsotti, P.; Faraggiana, T.; Renieri, A.; Seri, M.; Galli, L.; De Marchi, M.
In: Nephrology Dialysis Transplantation, Vol. 9, No. 10, 1994, p. 1408-1411.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - De-novo COL4A5 gene mutations in Alport's syndrome
AU - Massella, L.
AU - Rizzoni, G.
AU - De Blasis, R.
AU - Barsotti, P.
AU - Faraggiana, T.
AU - Renieri, A.
AU - Seri, M.
AU - Galli, L.
AU - De Marchi, M.
PY - 1994
Y1 - 1994
N2 - Before the advent of direct molecular gene analysis the diagnosis of Alport syndrome was operationally based on three of the four classical clinical criteria. Recently, mutations have been identified in the COL4A5 gene, which is involved in X-linked Alport syndrome. Here we describe two de-novo mutations in two unrelated children, a male and a female, both with early onset of the nephropathy, but with only one of the diagnostic criteria, i.e. electron-microscopy alterations. Because of the significant estimated proportion of de-novo mutations this diagnosis should be considered in children with early signs of nephropathy, even without a suggestive family history or clinical picture (ocular or audiologic abnormalities). In the future the diagnosis of Alport syndrome will probably be made on the basis of both clinical findings and molecular analysis. Now Alport syndrome is clearly underdiagnosed.
AB - Before the advent of direct molecular gene analysis the diagnosis of Alport syndrome was operationally based on three of the four classical clinical criteria. Recently, mutations have been identified in the COL4A5 gene, which is involved in X-linked Alport syndrome. Here we describe two de-novo mutations in two unrelated children, a male and a female, both with early onset of the nephropathy, but with only one of the diagnostic criteria, i.e. electron-microscopy alterations. Because of the significant estimated proportion of de-novo mutations this diagnosis should be considered in children with early signs of nephropathy, even without a suggestive family history or clinical picture (ocular or audiologic abnormalities). In the future the diagnosis of Alport syndrome will probably be made on the basis of both clinical findings and molecular analysis. Now Alport syndrome is clearly underdiagnosed.
KW - Alport syndrome
KW - Hereditary nephritis
UR - http://www.scopus.com/inward/record.url?scp=0028067653&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028067653&partnerID=8YFLogxK
M3 - Article
C2 - 7816253
AN - SCOPUS:0028067653
VL - 9
SP - 1408
EP - 1411
JO - Nephrology Dialysis Transplantation
JF - Nephrology Dialysis Transplantation
SN - 0931-0509
IS - 10
ER -