Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families
International Journal of Nephrology and Renovascular Disease, Volume 3, Year 2010
Notification
URL copied to clipboard!
Description
We carried out a protein and genetic investigation of the factor H gene mutations within two families presenting with a diagnostic suspicion of atypical hemolytic uremic syndrome (aHUS). The results within the patients of the first family revealed a factor H-deficiency. Direct sequencing allowed the detection of a 4-nucleotide deletion in the factor H gene. This deletion was found as the homozygote form in the proband and as the heterozygote form in the parents. Protein and functional analyses of the complement system were normal in all members of the second family. However, the molecular investigation for the father showed the presence of an amino acid substitution in the FH gene. Unfortunately, his two affected children died without being investigated for mutations. The functional consequences of these abnormal proteins are still to be demonstrated. © 2010 Habibi et al.
Authors & Co-Authors
Habibi, Imen
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Sfar, Imen
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Alaya, Walid Ben
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Ayadi, Abdelkarim
Tunisia, Mahdia
Hôpital Tahar Sfar
Blouin, Jacques
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Rhomdhane, Thouraya Ben
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Makhlouf, Mouna
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Aouadi, Houda
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Ayed-Jendoubi, Saloua
France, Paris
Hôpital Européen Georges-pompidou
Frémeaux-Bacchi, Véronique
Tunisia, Mahdia
Hôpital Tahar Sfar
Sfar, Mohammed Tahar
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Ben Abdallah, Taïeb
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Ayed, Khaled
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Gorgi, Yousr Lakhoua
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Statistics
Citations: 2
Authors: 14
Affiliations: 3
Identifiers
ISSN:
11787058
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health