Τίτλος:
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3
Pro252Arg mutation - case report and review of the literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated
syndrome, which was first described in late 1990s. 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.
Συγγραφείς:
Aravidis, Christos
Konialis, Christopher P.
Pangalos,
Constantinos G.
Kosmaidou, Zoi
Περιοδικό:
Journal of Maternal-Fetal and Neonatal Medicine
Εκδότης:
TAYLOR & FRANCIS LTD LONDON
Λέξεις-κλειδιά:
Craniosynostosis; fibroblast growth factor receptor 3; Muenke syndrome;
Pro250Arg mutation
DOI:
10.3109/14767058.2013.860520
