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Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F

Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano, Italy. f.natacci@policlinico.mi.it

We describe a sib recurrence for achondroplasia with parents of average stature. The three sibs shared the paternal allele and all carried the same causal mutation in the fibroblast growth factor receptor 3 gene (FGFR3): G > A nt1138 (Gly380Arg). We were able to identify this mutation on sperm DNA confirming paternal germinal mosaicism. Our family shows that a more precise definition of the recurrence risk is feasible using this approach, based on a single DNA test, which could be offered in selected cases.

Published 3 March 2008 in Am J Med Genet A, 146(6): 784-6.
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