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  • Title: A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.
    Author: Fellous M, Boué J, Malbrunot C, Wollman E, Sasportes M, Van Cong N, Marcelli A, Rebourcet R, Hubert C, Demenais F, Elston RC, Namboodiri KK, Kaplan EB, Fellous M.
    Journal: Am J Med Genet; 1982 Aug; 12(4):465-87. PubMed ID: 6214946.
    Abstract:
    In man, a malformation that recalls some of the defects associated with T/t mutants in the mouse is sacral agenesis. We report on a family with a high incidence of sacral malformation, ranging from a complete absence of the sacrum (SA), with or without spina bifida aperta, to a spina bifida occulta (SBO) that could only be detected by x-ray. The condition appeared in a man with four children who were all affect, and thereafter, to varying degrees, in 17 of his 28 descendants. Segregation analysis has been performed in this family, using the Elston and Stewart transmission probability model [1971]. The two traits (SA and SBO) were first studied separated and then together. A fully penetrant major dominant gene is show to cause SA. When the phenotypes SA and SBO are considered together, Mendelian transmission is rejected. This could be explained genetically by two alternative hypotheses: genetic heterogeneity or a dominant major gene transmitted in excess by heterozygotes (tau Aa A = 0.896), suggesting a segregation distortion property of an allele at a T-like locus.
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