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.
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs / F. Natacci, M. Baffico, U. Cavallari, M.F. Bedeschi, I. Mura, A. Paffoni, P.L. Setti, M. Baldi, F. Lalatta. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4833. - 146A:6(2008 Mar 15), pp. 784-786.
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
A. Paffoni;
2008
Abstract
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.File | Dimensione | Formato | |
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