A missense mutation in FIC1 is associated with greenland familial cholestasis

@article{Klomp2000AMM,
  title={A missense mutation in FIC1 is associated with greenland familial cholestasis},
  author={Leo W. J. Klomp and Laura N. Bull and Alex S. Knisely and Marjolein A. M. van der Doelen and Jenneke A. Juijn and Ruud Berger and Sylviane Forget and I M Nielsen and Hans Eiberg and Roderick H. J. Houwen},
  journal={Hepatology},
  year={2000},
  volume={32}
}
Greenland familial cholestasis is a severe form of intrahepatic cholestasis described among indigenous Inuit families in Greenland. Patients present with jaundice, pruritus, bleeding episodes, and steatorrhea, and die in childhood due to end‐stage liver disease. We investigated the possibility that Greenland familial cholestasis is caused by a mutation in FIC1, the gene defective in patients with progressive familial intrahepatic cholestasis type 1 and many cases of benign recurrent… 
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
TLDR
Mutations in ABCB11 are associated with BRIC, and consistent with the genetic classification of PFIC into 2 subtypes, it is proposed that this disorder be named BRIC type 2.
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
TLDR
The genomic organization of ATP8B1 is reported and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations are identified, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations, and 24 missense mutations.
Cholestasis Familiaris Groenlandica/ Byler-like disease in Greenland — A population study
TLDR
The high frequency of the mutation in East and Northwest Greenland strongly indicates that routine screening of the population for carrier status should be done, and a sensitive PCR method is developed to distinguish between normal and mutant alleles for ATP8B1.
Cholestasis Familiaris Groelandica: an epidemiological, clinical and genetic study
TLDR
The mutation causing Cholestasis Familiaris Groenlandica is widespread in Greenland, but accumulation is seen in certain areas, and the disease is burdensome for the child, the parents and the Greenlandic society.
Progressive familial intrahepatic cholestasis : Clinical, biochemical, genetic and histopathological aspects
TLDR
It is concluded that PFIC encompasses not one, but several cholestatic diseases, all caused by different defects in the formation of bile, and most children with PFIC caused by mutations in ABCB11 who undergo PEBD have a favorable long-term prognosis including histological improvement and long- term survival without the need for liver transplantation.
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1
TLDR
The data indicate that PFIC1 mutations lead to the complete absence of canalicular expression, whereas in BRIC1/ICP residual protein is expressed in the canalicular membrane, providing an explanation for the difference in severity between the phenotypes ofPFIC1 and BRIC 1.
Progressive familial intrahepatic cholestasis
TLDR
Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis, and most PFIC patients are ultimately candidates for liver transplantation.
Progressive Familial Intrahepatic Cholestasis: An Update
  • A. Knisely
  • Medicine
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • 2004
TLDR
The description of other cholestatic disorders as the background against which PFIC must be considered and the historical sketch of how the concept of PFIC evolved to describe a category of disease remain substantially valid.
Molecular basis of intrahepatic cholestasis
Intrahepatic cholestasis, or impairment of bile flow, is an important manifestation of inherited and acquired liver disease. In recent years, human genetic and molecular studies have identified
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.
TLDR
To elucidate the frequency of FIC1 (ATP8B1) and BSEP (ABCB11) mutations in Taiwanese children with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase (GGT) levels, liver complementary DNA sequencing was performed in 7 infants and two distinct liver histologic features were found.
...
...

References

SHOWING 1-10 OF 27 REFERENCES
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.
A locus for progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, has been mapped to a 19 cM region of chromosome 18 by a search for shared segments, using patients from
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
TLDR
This gene, called FIC1, is the first identified human member of a recently described subfamily of P-type ATPases; ATP-dependent aminophospholipid transport is the previously described function of members of this subfamily.
Progressive familial intrahepatic cholestasis: a personal perspective.
  • A. Knisely
  • Medicine, Biology
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • 2000
TLDR
Two types of PFIC now are recognized: PFIC-1, resulting from mutations in a gene called FIC1 (familial intrahepatic cholestasis, type 1), andPFIC-2, resulting in mutations inA gene called BSEP (bile salt export pump).
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC‐1] and Byler syndrome): Evidence for heterogeneity
TLDR
Examination of haplotypes in siblings with ByS in two unrelated non‐Amish families showed that the gene(s) responsible for their disorder did not lie in the PFIC‐1 candidate region, and genetic analysis and light microscopy and TEM of liver may help distinguish PF IC‐1 from other forms of ByS.
PERSPECTIVES IN PEDIATRIC PATHOLOGY: Progressive Familial Intrahepatic Cholestasis: A Personal Perspective
TLDR
Two types of PFIC now are recognized: PFIC-1, resulting from mutations in a gene called FIC1 (familial intrahepatic cholestasis, type 1), andPFIC-2, resulting in mutations inA gene called BSEP (bile salt export pump).
Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers.
TLDR
Samples from 126 persons, from a large pedigree in East Greenland including 7 affected and from two families in West Greenland with a total of 3 affected children, have been collected for studying 45 polymorphic markers and for mapping the CFG disease.
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
TLDR
The results demonstrate that mutations in the human MDR3 gene lead to progressive familial intrahepatic cholestasis with high serum gamma-GT.
Linkage of Cholestasis Familiaris Groenlandica/Byler-like disease to chromosome 18.
TLDR
In East Greenland a common recessive disease, Cholestasis Familiaris Groenlandica (CFG)/Byler-like disease, occurs in Eskimo children and a possibility of locus heterogeneity of CFG between East and West Greenland exist.
Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children
TLDR
The pedigrees are compatible with autosomal recessive inheritance and the syndrome has some features in common with previously described patients with familial intrahepatic cholestasis.
...
...