Possible linear order of genes for endocrine neoplasia type 2, the P red cell antigen and HL-A on chromosome 6.
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Biomedical subjects
Publications and source records attributed to C E Jackson.
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Of 13 patients treated surgically for familial medullary thyroid carcinoma in whom parathyroid tissue was availabe, the majority showed parathyroid abnormalities (hyperplasia in sis, tumors in five). Two patients had had renal calculi. No correlation was evident between the presence of the parathyroid tumors and peripheral blood levels of parathyroid hormone. Hyperparathyroidism is usually mild, but occasionally it results in complications of hypercalcemia. Hyperparathyroidism has not appeared to date following removal of medullary thyroid carcinoma associated with normal-sized but microscopically hyperplastic parathyroids. Evidence of parathyroid abnormalities has not been recognized in eight patients with sporadic medullary carcinoma, making genetic factors dominant in explaining the association of parathyroid hyperplasia and this carcinoma. At operation, parathyroid glands should be evaluated and those that are grossly enlarged removed while preserving parathyroid function.
Hairy cutaneous malformations of the palms and soles were observed in four generations of a French-Canadian family. The lesions were asymptomatic, bilaterally symmetrical, and involved small areas of skin of the central proximal part of the palms near the wrist and the medial aspect of the longitudinal arch of the foot. The appearance suggested a difference in quality of the skin rather than simply the presence of hair follicles. Examination of a biopsy specimen showed skin containing hair follicles. The pattern of inheritance was autosomal dominant with definate male-to-male transmission. Genetic linkage studies were generally noninformative, but evidence was obtained against close chromosomal linkage of this trait to the histocompatibility antigen (HL-A) or Rh blood group locus. The only other known case of a familiar condition was reported by Schnitzler in 1973.
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An experience with 8 families with 56 members affected with hyperparathyroidism has emphasized that heredity is an important etiologic factor in this disease. The finding of other endocrine involvement in several members of these families has suggested that hereditary hyperparathyroidism is only a part of the autosomal dominantly inherited multiple endocrine adenomatosis syndrome. This association with hyperparathyroidism, a disease being found with increasing frequency as an inherited condition, provides evidence that multiple endocrine adenomatosis is more common than previously suspected.
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Genetic, tissue culture and ultrastructural studies demonstrate the heterogeneous nature of oculocutaneous albinism and a proposed classification based on these criteria is given. Six mutations are identified and the population frequencies of the common forms are determined. Some forms have, in addition to a pigment defect, abnormalities in platelets, glycolipids and chromosomes. In tyrosinase positive albinism, both in vitro and in vivo pigment formation can be induced by 1-tyrosine or 1-dopa.
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