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

Federica Natacci, Maria Baffico, Ugo Cavallari, Maria Francesca Bedeschi, Isabella Mura, Alessio Paffoni, Paolo Levi Setti, Maurizia Baldi, Faustina Lalatta

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)784-786
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number6
DOIs
Publication statusPublished - Mar 15 2008

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Keywords

  • Achondroplasia
  • Genetic counseling
  • Germline mosaicism
  • Recurrence risk

ASJC Scopus subject areas

  • Genetics(clinical)

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