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

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, B├ętard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM
Am J Hum Genet. 2001 68 (4): 1048-54

PMID: 11254457 · PMCID: PMC1275624 · DOI:10.1086/319505

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 approximately 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.

MeSH Terms (22)

Alleles Bone Marrow Diseases Centromere Chromosome Mapping Chromosomes, Human, Pair 7 Exocrine Pancreatic Insufficiency Female Gene Frequency Genes, Recessive Genetic Heterogeneity Genetic Linkage Haplotypes Humans Lod Score Male Models, Genetic Musculoskeletal Abnormalities Mutation Myeloid Cells Pedigree Software Syndrome

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