title: A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
abstract: Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, hearing impairment and intellectual disability. The syndrome is defined molecularly by a unique point mutation c.749C > G in exon 7 of the FGFR3 gene which results to an amino acid substitution p.Pro250Arg of the protein product. Despite the fact that the mutation rate at this nucleotide is one of the most frequently described in human genome, few Muenke familial case reports are published in current literature. We describe individuals among three generations of a Greek family who are carriers of the same mutation. Medical record and physical examination of family members present a wide spectrum of clinical manifestations. In particular, a 38-year-old woman and her father appear milder clinical findings regarding craniofacial characteristics compared to her uncle and newborn female child. This familial case illustrates the variable expressivity of Muenke syndrome in association with an identical gene mutation.
authors.affiliation: Critical Care Department, Cytogenetics Unit, Evangelismos Hospital, Medical School of Athens University , Athens , Greece .
authors.forename: Christos
authors.initials: C
authors.lastname: Aravidis
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Konialis
authors.forename: Constantinos G
authors.initials: CG
authors.lastname: Pangalos
authors.forename: Zoi
authors.initials: Z
authors.lastname: Kosmaidou
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D005190:Family; D005260:Female; D006115:Greece; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011392:Proline / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: D001120:Arginine; D011392:Proline; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: Craniosynostosis; Muenke syndrome; Pro250Arg mutation; fibroblast growth factor receptor 3