A new Graves disease-susceptibility locus maps to chromosome 20q11.2

Article Abstract:

A new Graves disease-susceptibility locus has been mapped to chromosome 20q11.2 based on a whole-genome linkage study of patients with autoimmune thyroid diseases, made up of Graves and Hashimoto thyroiditis, diseases that develop in those who are genetically predisposed. A data set of 53 multigenerational, multiplex AITD families with 323 persons was studied using highly polymorphic and closely spaced microsatellite markers, and no evidence for heterogeneity was found.

United States, Statistical Data Included, Graves' disease, Thyroiditis, Autoimmune, Autoimmune thyroiditis

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A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 (ital) gene

Article Abstract:

A clinical variant of spinal neurofibromatosis (SNF) type 1 has been identified, a familial SNF with a frameshift mutation in the neurofibromatosis type 1 (NFL (ital)) gene. A three-generation family having five SNF members has been studied. Affected members have multiple spinal neurofibromas and cafe au lait spots. One had cutaneous neurofibromas. Some members had other NF1 (ital) signs.

Spain, Bones, Abnormalities, Neurofibromatosis, Musculoskeletal abnormalities

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