title: Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.
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.
authors.affiliation: Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano, Italy. f.natacci@policlinico.mi.it
authors.forename: Federica
authors.initials: F
authors.lastname: Natacci
authors.forename: Maria
authors.initials: M
authors.lastname: Baffico
authors.forename: Ugo
authors.initials: U
authors.lastname: Cavallari
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Bedeschi
authors.forename: Isabella
authors.initials: I
authors.lastname: Mura
authors.forename: Alessio
authors.initials: A
authors.lastname: Paffoni
authors.forename: Paolo Levi
authors.initials: PL
authors.lastname: Setti
authors.forename: Maurizia
authors.initials: M
authors.lastname: Baldi
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
mesh_terms: D000025:Abortion, Eugenic; D000130:Achondroplasia / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005220:Fathers; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D035781:Siblings; D013094:Spermatozoa / Q000378:metabolism