Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26

The thoraco-abdominal syndrome (TAS) presents a closure defect confined to the ventral midline, manifested as ventral hernia of various degrees in all affected individuals and antero-lateral diaphragmatic defect manifested almost exclusively in affected males. The syndrome is inherited as an X-linked dominant trait affecting blastogenesis (XLB mutation). The authors studied 27 members of the TAS family for linkage on the X chromosome. The best lod score of 5.5 at {theta}0.04 was found for the HPRT locus on Xq26.1. A multilocus lod score of 12.4 was observed when the linkage analysis utilized additional markers in Xq25-26. 28 refs., 2 figs., 1 tab.