Abstract
The X-linked recessive centronuclear myopathy (XLR-CNM), a severe neonatal disorder characterized by generalised hypotonia, muscle weakness and primary asphyxia, has recently been mapped to Xq28. We investigated 70 members of eight CNM-families using the Xq28 probes DX13, St14, FVIII, 767, and cpX67 Strong linkage was found with St14 (lod score z = 3.12 ; Θ = 0.01), followed by FVIII, DX13, and 767, proving them to be useful for prenatal diagnosis (pnD). This is the first report on pnD in two CNM-families: In family 1 two pnD have been performed for an obligate carrier having had two affected sons. Linkage analyses using probes DX13, Stl4, and 767 showed a male fetus having inherited the same X-chromosome as his two deceased brothers, and the parents choose abortion. In a further pregnancy the fetus was a girl having no risk of being affected. The patient of family 2 was a sporadic case and the mother's carrier state was not known. PnD in the second pregnancy detected that the fetus had inherited the grandpatemal X-chromosome as his deceased brother. At birth the boy was affected, proving that pnD was correct and that the CNM-mutation had occured during the grandpatemal spermiogenesis. This presentation points to the fact, that in families at risk for CNM pnD can now be offered.
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Liechti-Gallati, S., Müller, B., Grimm, T. et al. 151 X-linked centronuclear myopathy: gene localization and prenatal diagnosis. Pediatr Res 28, 302 (1990). https://doi.org/10.1203/00006450-199009000-00175
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DOI: https://doi.org/10.1203/00006450-199009000-00175