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

✍ Scribed by Federica Natacci; Maria Baffico; Ugo Cavallari; Maria Francesca Bedeschi; Isabella Mura; Alessio Paffoni; Paolo Levi Setti; Maurizia Baldi; Faustina Lalatta

• Book ID: 101455942
• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 91 KB
• Volume: 146A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32228

✦ Synopsis

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. © 2008 Wiley‐Liss, Inc.