PMID- 10577907
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20181130
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 6
DP  - 1999 Dec
TI  - Complement factor H gene mutation associated with autosomal recessive atypical
      hemolytic uremic syndrome.
PG  - 1538-46
AB  - Atypical hemolytic uremic syndrome (HUS) presents with the clinical features of
      hypertension, microangiopathic hemolytic anemia, and acute renal failure. Both
      dominant and recessive modes of inheritance have been reported. This study
      describes the genetic and functional analysis of a large Bedouin kindred with
      autosomal recessive HUS. The kindred consists of several related nuclear families
      in which all parent unions of affected children are consanguineous. A previous
      report demonstrated that a dominant form of HUS maps to chromosome 1q and that
      complement factor H (CFH), a regulatory component of the complement system, lies 
      within the region and is involved in the dominant disorder. Early-onset and
      persistent hypocomplementemia in this Bedouin kindred prompted us to evaluate the
      CFH gene. Linkage analysis was performed, demonstrating linkage between the
      disorder and the markers near the CFH gene. Mutation analysis of the CFH coding
      region revealed a single missense mutation. Functional analyses demonstrate that 
      the mutant CFH is properly expressed and synthesized but that it is not
      transported normally from the cell. This is the first study reporting that a
      recessive, atypical, early-onset, and relapsing HUS is associated with the CFH
      protein and that a CFH mutation affects intracellular trafficking and secretion.
FAU - Ying, L
AU  - Ying L
AD  - Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA.
FAU - Katz, Y
AU  - Katz Y
FAU - Schlesinger, M
AU  - Schlesinger M
FAU - Carmi, R
AU  - Carmi R
FAU - Shalev, H
AU  - Shalev H
FAU - Haider, N
AU  - Haider N
FAU - Beck, G
AU  - Beck G
FAU - Sheffield, V C
AU  - Sheffield VC
FAU - Landau, D
AU  - Landau D
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Complement C3)
RN  - 0 (Genetic Markers)
RN  - 0 (RNA, Messenger)
RN  - 0 (complement factor H, human)
RN  - 80295-65-4 (Complement Factor H)
SB  - IM
CIN - Am J Hum Genet. 2000 May;66(5):1721-2. PMID: 10762557
MH  - Age of Onset
MH  - Base Sequence
MH  - Cells, Cultured
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Complement C3/analysis/biosynthesis/metabolism
MH  - Complement Factor H/analysis/biosynthesis/*genetics/metabolism
MH  - Consanguinity
MH  - Exons/genetics
MH  - Female
MH  - Fibroblasts/metabolism/pathology
MH  - Genes, Recessive/*genetics
MH  - Genetic Linkage/*genetics
MH  - Genetic Markers/genetics
MH  - Hemolytic-Uremic Syndrome/blood/*genetics/pathology
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - RNA, Messenger/genetics/metabolism
MH  - Skin
PMC - PMC1288364
EDAT- 1999/12/01 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/12/01 09:00
PHST- 1999/12/01 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/12/01 09:00 [entrez]
AID - S0002-9297(07)63573-3 [pii]
AID - 10.1086/302673 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Dec;65(6):1538-46. doi: 10.1086/302673.