Mapping of a further locus for X-linked craniofrontonasal syndrome.
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.
Wieland
I
I
Institut für Humangenetik, Otto-von-Guericke Universität, Magdeburg, Germany.
Jakubiczka
S
S
Muschke
P
P
Wolf
A
A
Gerlach
L
L
Krawczak
M
M
Wieacker
P
P
D002460:Cell Line; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D004303:Dosage Compensation, Genetic; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D013577:Syndrome