Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

Sandra S. Strautnieks; Amir F. Kagalwalla; M. Stuart Tanner; A. S. Knisely; Laura Bull; Nelson Freimer; Sam A. Kocoshis; R. Mark Gardiner; Richard J. Thompson

doi:10.1086/515501

Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

Sandra S. Strautnieks, Amir F. Kagalwalla, M. Stuart Tanner, A. S. Knisely, Laura Bull, Nelson Freimer, Sam A. Kocoshis, R. Mark Gardiner, Richard J. Thompson^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

174 Scopus citations

Abstract

Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype. Linkage analysis in six consanguineous PFIC pedigrees from the Middle East has previously excluded linkage to chromosome 18q21-22, indicating the existence of locus heterogeneity within the PFIC phenotype. By use of homozygosity mapping and a genome scan in these pedigrees, a locus designated 'PFIC2' has been mapped to chromosome 2q24. A maximum LOD score of 8.5 was obtained in the interval between marker loci D2S306 and D2S124, with all families linked.

Original language	English (US)
Pages (from-to)	630-633
Number of pages	4
Journal	American journal of human genetics
Volume	61
Issue number	3
DOIs	https://doi.org/10.1086/515501
State	Published - Sep 1997

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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@article{b55e3b5877cc434fb0965eeab369a52c,

title = "Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24",

abstract = "Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype. Linkage analysis in six consanguineous PFIC pedigrees from the Middle East has previously excluded linkage to chromosome 18q21-22, indicating the existence of locus heterogeneity within the PFIC phenotype. By use of homozygosity mapping and a genome scan in these pedigrees, a locus designated 'PFIC2' has been mapped to chromosome 2q24. A maximum LOD score of 8.5 was obtained in the interval between marker loci D2S306 and D2S124, with all families linked.",

author = "Strautnieks, {Sandra S.} and Kagalwalla, {Amir F.} and Tanner, {M. Stuart} and Knisely, {A. S.} and Laura Bull and Nelson Freimer and Kocoshis, {Sam A.} and Gardiner, {R. Mark} and Thompson, {Richard J.}",

note = "Funding Information: This study was made possible by the cooperation of patients, their families, and referring physicians. R.J.T. is a Wellcome Trust Medical Graduate Training Fellow. A.S.K. was supported by a grant from the Research Advisory Committee of the Children{\textquoteright}s Hospital of Pittsburgh. This work was also supported by National Institutes of Health R01 grant DK50697 to N.F. L.B. was supported by a postdoctoral National Research Service Award from the National Institutes of Mental Health and by a Young Investigator Award from the National Alliance for Research on Schizophrenia and Depression.",

year = "1997",

month = sep,

doi = "10.1086/515501",

language = "English (US)",

volume = "61",

pages = "630--633",

journal = "American Journal of Human Genetics",

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T1 - Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

AU - Strautnieks, Sandra S.

AU - Kagalwalla, Amir F.

AU - Tanner, M. Stuart

AU - Knisely, A. S.

AU - Bull, Laura

AU - Freimer, Nelson

AU - Kocoshis, Sam A.

AU - Gardiner, R. Mark

AU - Thompson, Richard J.

N1 - Funding Information: This study was made possible by the cooperation of patients, their families, and referring physicians. R.J.T. is a Wellcome Trust Medical Graduate Training Fellow. A.S.K. was supported by a grant from the Research Advisory Committee of the Children’s Hospital of Pittsburgh. This work was also supported by National Institutes of Health R01 grant DK50697 to N.F. L.B. was supported by a postdoctoral National Research Service Award from the National Institutes of Mental Health and by a Young Investigator Award from the National Alliance for Research on Schizophrenia and Depression.

PY - 1997/9

Y1 - 1997/9

N2 - Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype. Linkage analysis in six consanguineous PFIC pedigrees from the Middle East has previously excluded linkage to chromosome 18q21-22, indicating the existence of locus heterogeneity within the PFIC phenotype. By use of homozygosity mapping and a genome scan in these pedigrees, a locus designated 'PFIC2' has been mapped to chromosome 2q24. A maximum LOD score of 8.5 was obtained in the interval between marker loci D2S306 and D2S124, with all families linked.

AB - Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype. Linkage analysis in six consanguineous PFIC pedigrees from the Middle East has previously excluded linkage to chromosome 18q21-22, indicating the existence of locus heterogeneity within the PFIC phenotype. By use of homozygosity mapping and a genome scan in these pedigrees, a locus designated 'PFIC2' has been mapped to chromosome 2q24. A maximum LOD score of 8.5 was obtained in the interval between marker loci D2S306 and D2S124, with all families linked.

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Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

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