Limits...
Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families.

Habibi I, Sfar I, Ben Alaya W, Methlouthi J, Ayadi A, Brahim M, Blouin J, Dhagbouj R, Ben Rhomdhane T, Makhlouf M, Aouadi H, Ayed-Jendoubi S, Fremeaux-Bacchi V, Sfar T, Ben Abdallah T, Ayed K, Gorgi Y - Int J Nephrol Renovasc Dis (2010)

Bottom Line: 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.The functional consequences of these abnormal proteins are still to be demonstrated.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Immunology, Charles Nicolle Hospital, Tunis, Tunisia.

No MeSH data available.


Related in: MedlinePlus

DNA sequencing for a section of factor H SCR20 in family A.Notes: A) Wild type chromatogram, B) Chromatogram of I–4 patient: After the nucleotides AAAAAGA, there is a deletion of 4 nucleotides TAGA (3767_3771delTAGA), C) Chromatogram of a heterozygous patient with superposed peaks from the wild-type and mutant alleles.
© Copyright Policy
Related In: Results  -  Collection


getmorefigures.php?uid=PMC3108774&req=5

f2-ijnrd-3-085: DNA sequencing for a section of factor H SCR20 in family A.Notes: A) Wild type chromatogram, B) Chromatogram of I–4 patient: After the nucleotides AAAAAGA, there is a deletion of 4 nucleotides TAGA (3767_3771delTAGA), C) Chromatogram of a heterozygous patient with superposed peaks from the wild-type and mutant alleles.

Mentions: Genomic sequencing showed a four-bp TAGA or ATAG deletion in SCR 20 of factor H, between nucleotides of 3767 and 3770, as a homozygous state in the patient (I-4) and a heterozygous state in the parents; and all family members carried heterozygous FH deficiency (Figure 2). This mutation leads to the loss of the normal stop codon (TAG) inducing a frame shift in factor H coding sequence. The predicted protein sequence shows 37 additional amino acid changes induced by this deletion.


Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families.

Habibi I, Sfar I, Ben Alaya W, Methlouthi J, Ayadi A, Brahim M, Blouin J, Dhagbouj R, Ben Rhomdhane T, Makhlouf M, Aouadi H, Ayed-Jendoubi S, Fremeaux-Bacchi V, Sfar T, Ben Abdallah T, Ayed K, Gorgi Y - Int J Nephrol Renovasc Dis (2010)

DNA sequencing for a section of factor H SCR20 in family A.Notes: A) Wild type chromatogram, B) Chromatogram of I–4 patient: After the nucleotides AAAAAGA, there is a deletion of 4 nucleotides TAGA (3767_3771delTAGA), C) Chromatogram of a heterozygous patient with superposed peaks from the wild-type and mutant alleles.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3108774&req=5

f2-ijnrd-3-085: DNA sequencing for a section of factor H SCR20 in family A.Notes: A) Wild type chromatogram, B) Chromatogram of I–4 patient: After the nucleotides AAAAAGA, there is a deletion of 4 nucleotides TAGA (3767_3771delTAGA), C) Chromatogram of a heterozygous patient with superposed peaks from the wild-type and mutant alleles.
Mentions: Genomic sequencing showed a four-bp TAGA or ATAG deletion in SCR 20 of factor H, between nucleotides of 3767 and 3770, as a homozygous state in the patient (I-4) and a heterozygous state in the parents; and all family members carried heterozygous FH deficiency (Figure 2). This mutation leads to the loss of the normal stop codon (TAG) inducing a frame shift in factor H coding sequence. The predicted protein sequence shows 37 additional amino acid changes induced by this deletion.

Bottom Line: 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.The functional consequences of these abnormal proteins are still to be demonstrated.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Immunology, Charles Nicolle Hospital, Tunis, Tunisia.

No MeSH data available.


Related in: MedlinePlus