The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
The Molecular Basis of Familial Hemolytic Uremic Syndrome: Mutation Analysis of Factor H Gene Reveals a Hot Spot in Short Consensus Repeat 20
Abstract
Abstract.: The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing linkage and mutation studies in a large number of patients from those referred to the Italian Registry for Recurrent and Familial HUS/TTP. PCR and Western blot analyses were conducted to characterize the biochemical consequences of the mutations. Five mutations in the factor H gene were identified. Three, identified in two families and in a sporadic case, are heterozygous point mutations within the most C-terminal short consensus repeat 20 (SCR20) of factor H, resulting in single amino acid substitutions. The other two mutations introduce premature stop codons that interrupt the translation of factor H. A heterozygous nonsense mutation was identified in SCR8 in one family, and a homozygous 24-bp deletion within SCR20 was identified in a Bedouin family with a recessive mode of inheritance. Reverse transcription-PCR analysis of cDNA from peripheral blood leukocytes from the Bedouin family showed that the deletion lowered factor H mRNA levels. Although heterozygous mutations were associated with normal factor H levels and incomplete penetrance of the disease, the homozygous mutation in the Bedouin family resulted in severe reduction of factor H levels accompanied by very early disease onset. These data provide compelling molecular evidence that genetically determined deficiencies in factor H are involved in both autosomal-dominant and autosomal-recessive hemolytic uremic syndrome and identify SCR20 as a hot spot for mutations in the disease. The mutations identified here give an important hint to the relevance of the C-terminus of factor H in the control of the alternative complement activation pathway.
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Cited by
Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S., et al. (2006) · Blood · doi:10.1182/blood-2005-10-007252 · Cited by 732
Self-citationThrombomodulin Mutations in Atypical Hemolytic–Uremic Syndrome
Delvaeye, M., Noris, M., De Vriese, A., Esmon, C. T., Esmon, N. L., Ferrell, G., Del-Favero, J., Plaisance, S., Claes, B., Lambrechts, D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810739 · Cited by 554
Self-citationThrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura
Ruggenenti, P., Noris, M., & Remuzzi, G. (2001) · Kidney International · doi:10.1046/j.1523-1755.2001.060003831.x · Cited by 489
Self-citationComplement control protein factor H: The good, the bad, and the inadequate
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Dragon-Durey, M.-A., Frémeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Herman Fridman, W., & Weiss, L. (2004) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000115702.28859.a7 · Cited by 355
Metadata
- Authors
- CAPRIOLI, J., BETTINAGLIO, P., ZIPFEL, P. F., AMADEI, B., DAINA, E., GAMBA, S., SKERKA, C., MARZILIANO, N., REMUZZI, G., & NORIS, M.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2001-02
- Volume
- 12
- Issue
- 2
- Pages
- 297-307
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2134898804
- Cited by
- 286
- References
- 23
- FWCI
- 4.42
- Type
- journal article
- Language
- en
- Open access
- closed
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- CAPRIOLI, J., BETTINAGLIO, P., ZIPFEL, P. F., AMADEI, B., DAINA, E., GAMBA, S., SKERKA, C., MARZILIANO, N., REMUZZI, G., & NORIS, M. (2001). The Molecular Basis of Familial Hemolytic Uremic Syndrome: Mutation Analysis of Factor H Gene Reveals a Hot Spot in Short Consensus Repeat 20. Journal of the American Society of Nephrology. https://doi.org/10.1681/asn.v122297
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