Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity

Article Abstract:

Familial hemophagocytic lymphohistiocytosis (FHL) has been linked to 10q21-22. FHL is an autosomal recessive disorder that is lethal unless there is an allogeneic bone marrow transplant. Seventeen FHL families were analyzed using genomewide genetic linkage analysis. Heterogeneity analysis and haplotype study of the families that were not among the 10 that had no recombination with three tightly linked markers with a maximum multipoint LOD score of 11.22 at the D10S1650 locus, showed that in seven of them FHL was not linked to the 10q21-22 region so evidence for heterogeneity exists. FHL is also known as familial hemophagocytic reticulosis or erhtrophagocytic lymphohistiocytosis or histocytosis.

United States, Germany, France, Sweden, Usage, Pediatric diseases, Chromosome mapping, Familial diseases, Immunologic diseases, Immunologic diseases in children

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Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family

Article Abstract:

Two genes with additive affect appear to segregate together with impaired hearing in a Swedish family exhibiting nonsyndromic progressive bilateral sensorineural hearing loss. Of thirteen candidate loci tested for linkage, significant LOD scores were obtained for markers at locus DFNA 12 (11q22-q24); scores were also suggestive for markers at locus DFNA2 (1p32). Individuals with haplotypes linked to the disease allele on either chromosome 1 or chromosome 11 had less severe hearing loss than those with haplotypes linked to the disease allele on both chromosomes.

Hearing loss

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