Mutation of the type X collagen gene (COL10A1(ital)) causes spondylometaphyseal dysplasia

Article Abstract:

Spondylometaphyseal dysplasia (SMD), a heterogeneous group of skeletal dysplasias involving the vertebral bodies and metaphyses of the tubular bones, and its cause, mutation of the type X collagen gene, COL10A1 (ital), are discussed. The coding region of COL10A1 (ital) has been studied by direct sequencing of DNA from five unrelated SMD patients with the finding of a heterozygous missense mutation that cosegregates with the disease phenotype in an SMD family.

United States, Abnormalities, Vertebrae, Dysplasia, Collagen diseases

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Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p

Article Abstract:

Research has determined a genetic locus for the autosomal recessive disorder gelatinous drop-like corneal dystrophy (GDLD), which causes amyloid deposits that impair vision. After linkage analyses were performed on affected Japanese subjects, homozygosity mapping placed the disease locus on the chromosome 1 short arm. Increased accuracy was obtained through haplotype analysis.

Causes of, Eye diseases, Corneal diseases

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Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1

Article Abstract:

Benign adult familial myoclonic epilepsy (BAFME), an autosomal dominant idiopathic epileptic syndrome recently recognized in Japanese families, is discussed relative to its localization to chromosome 8q23.3-q24.1. The gene locus was assigned by linkage analysis in a large Japanese kindred.

Statistical Data Included, Epilepsy, Familial diseases, Myoclonus

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