Significant phenotypic variability of Muenke syndrome in identical twins

Am J Med Genet A. 2009 Jun;149A(6):1273-6. doi: 10.1002/ajmg.a.32841.

Abstract

Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced / etiology*
  • Abnormalities, Multiple / chemically induced*
  • Abnormalities, Multiple / genetics
  • Adult
  • Amino Acid Sequence
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Child
  • Craniosynostoses / genetics*
  • Diseases in Twins / genetics
  • Female
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Nortriptyline / adverse effects
  • Phenotype
  • Pregnancy
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*
  • Syndrome
  • Twins, Monozygotic / genetics*

Substances

  • Nortriptyline
  • Receptor, Fibroblast Growth Factor, Type 3