Mapping of a further locus for X-linked craniofrontonasal syndrome |
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Authors: | Wieland I Jakubiczka S Muschke P Wolf A Gerlach L Krawczak M Wieacker P |
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Institution: | Institut für Humangenetik, Otto-von-Guericke Universit?t, Magdeburg, Germany. |
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Abstract: | Craniofrontonasal syndrome is a rare dysostosis syndrome with an unusual pattern of X-linked inheritance, because males are usually not or less severely affected than females. Previously, a CFNS locus has been localised in Xp22. We report on a haplotype analysis in a German CFNS family, mapping the CFNS locus to the pericentromeric region of the X chromosome. This discrepancy can be explained by locus heterogeneity. Furthermore, random X inactivation could be demonstrated in affected females. The most plausible interpretation for this unusual pattern of X-linked inheritance is metabolic interference. Consequently, we propose that the CFNS gene escapes X inactivation. |
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