Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7

Sharan Goobie; Maja Popovic; Jodi Morrison; Lynda Ellis; Hedy Ginzberg; Graeme R.B. Boocock; Nadia Ehtesham; Christine Bétard; Carl G. Brewer; Nicole M. Roslin; Thomas J. Hudson; Kenneth Morgan; T. Mary Fujiwara; Peter R. Durie; Johanna M. Rommens

doi:10.1086/319505

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7

Sharan Goobie, Maja Popovic, Jodi Morrison, Lynda Ellis, Hedy Ginzberg, Graeme R.B. Boocock, Nadia Ehtesham, Christine Bétard, Carl G. Brewer, Nicole M. Roslin, Thomas J. Hudson, Kenneth Morgan, T. Mary Fujiwara, Peter R. Durie, Johanna M. Rommens

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112 Citas (Scopus)

Resumen

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at ∼50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.

Idioma original	English
Páginas (desde-hasta)	1048-1054
Número de páginas	7
Publicación	American Journal of Human Genetics
Volumen	68
N.º	4
DOI	https://doi.org/10.1086/319505
Estado	Published - 2001
Publicado de forma externa	Sí

Nota bibliográfica

Funding Information:
We thank M. Corey, Ph.D., for discussions and for registry information on patients with CF. We thank S. Clark and C. Darmond-Zwaig, for technical assistance, and J C. Loredo-Osti, for helpful discussions on linkage analysis. We are grateful for the cooperation of the patients with SDS, their families, and their physicians. We also acknowledge support from Shwachman-Diamond Canada, Shwachman Support of Great Britain, The Harrison Wright Appeal, Shwachman-Diamond Support of Australia, Shwachman-Diamond Support International, and the Canadian Institutes of Health Research (CIHR). T.J.H., K.M., and J.M.R. are members of the Networks of Centres of Excellence–Canadian Genetic Diseases Network (CGDN). T.J.H. holds a Clinician Scientist Award from the CIHR. T.M.F. is supported by a gift to McGill University from Alcan Aluminum, Limitée. S.G. was a recipient of a graduate studentship from the Natural Sciences and Engineering Research Council of Canada. M.P. is a recipient of studentships from the Ontario Graduate Program and from the Joint Hospital for Sick Children–CGDN Program. H.G. received Duncan Gordon and Canadian Association of Gastroenterology/Janssen fellowships.

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

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Goobie, S., Popovic, M., Morrison, J., Ellis, L., Ginzberg, H., Boocock, G. R. B., Ehtesham, N., Bétard, C., Brewer, C. G., Roslin, N. M., Hudson, T. J., Morgan, K., Fujiwara, T. M., Durie, P. R., & Rommens, J. M. (2001). Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. American Journal of Human Genetics, 68(4), 1048-1054. https://doi.org/10.1086/319505

Goobie, S, Popovic, M, Morrison, J, Ellis, L, Ginzberg, H, Boocock, GRB, Ehtesham, N, Bétard, C, Brewer, CG, Roslin, NM, Hudson, TJ, Morgan, K, Fujiwara, TM, Durie, PR & Rommens, JM 2001, 'Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7', American Journal of Human Genetics, vol. 68, n.º 4, pp. 1048-1054. https://doi.org/10.1086/319505

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title = "Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7",

abstract = "Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at ∼50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.",

author = "Sharan Goobie and Maja Popovic and Jodi Morrison and Lynda Ellis and Hedy Ginzberg and Boocock, {Graeme R.B.} and Nadia Ehtesham and Christine B{\'e}tard and Brewer, {Carl G.} and Roslin, {Nicole M.} and Hudson, {Thomas J.} and Kenneth Morgan and Fujiwara, {T. Mary} and Durie, {Peter R.} and Rommens, {Johanna M.}",

note = "Funding Information: We thank M. Corey, Ph.D., for discussions and for registry information on patients with CF. We thank S. Clark and C. Darmond-Zwaig, for technical assistance, and J C. Loredo-Osti, for helpful discussions on linkage analysis. We are grateful for the cooperation of the patients with SDS, their families, and their physicians. We also acknowledge support from Shwachman-Diamond Canada, Shwachman Support of Great Britain, The Harrison Wright Appeal, Shwachman-Diamond Support of Australia, Shwachman-Diamond Support International, and the Canadian Institutes of Health Research (CIHR). T.J.H., K.M., and J.M.R. are members of the Networks of Centres of Excellence–Canadian Genetic Diseases Network (CGDN). T.J.H. holds a Clinician Scientist Award from the CIHR. T.M.F. is supported by a gift to McGill University from Alcan Aluminum, Limit{\'e}e. S.G. was a recipient of a graduate studentship from the Natural Sciences and Engineering Research Council of Canada. M.P. is a recipient of studentships from the Ontario Graduate Program and from the Joint Hospital for Sick Children–CGDN Program. H.G. received Duncan Gordon and Canadian Association of Gastroenterology/Janssen fellowships. ",

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AU - Goobie, Sharan

AU - Popovic, Maja

AU - Morrison, Jodi

AU - Ellis, Lynda

AU - Ginzberg, Hedy

AU - Boocock, Graeme R.B.

AU - Ehtesham, Nadia

AU - Bétard, Christine

AU - Brewer, Carl G.

AU - Roslin, Nicole M.

AU - Hudson, Thomas J.

AU - Morgan, Kenneth

AU - Fujiwara, T. Mary

AU - Durie, Peter R.

AU - Rommens, Johanna M.

N1 - Funding Information: We thank M. Corey, Ph.D., for discussions and for registry information on patients with CF. We thank S. Clark and C. Darmond-Zwaig, for technical assistance, and J C. Loredo-Osti, for helpful discussions on linkage analysis. We are grateful for the cooperation of the patients with SDS, their families, and their physicians. We also acknowledge support from Shwachman-Diamond Canada, Shwachman Support of Great Britain, The Harrison Wright Appeal, Shwachman-Diamond Support of Australia, Shwachman-Diamond Support International, and the Canadian Institutes of Health Research (CIHR). T.J.H., K.M., and J.M.R. are members of the Networks of Centres of Excellence–Canadian Genetic Diseases Network (CGDN). T.J.H. holds a Clinician Scientist Award from the CIHR. T.M.F. is supported by a gift to McGill University from Alcan Aluminum, Limitée. S.G. was a recipient of a graduate studentship from the Natural Sciences and Engineering Research Council of Canada. M.P. is a recipient of studentships from the Ontario Graduate Program and from the Joint Hospital for Sick Children–CGDN Program. H.G. received Duncan Gordon and Canadian Association of Gastroenterology/Janssen fellowships.

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N2 - Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at ∼50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.

AB - Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at ∼50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.

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Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7

Resumen

Nota bibliográfica

ASJC Scopus Subject Areas

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