F A Beemer

Publications (9)12.73 Total impact

• Article: The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

  K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner-Eidenböck, D L Rimoin, L Siderius, A Superti-Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, G R Mortier
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  ABSTRACT: The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate. To investigate in more detail the phenotype resulting from arginine to cysteine mutations in the COL2A1 gene. The clinical and radiographic phenotype of all patients in whom an arginine to cysteine mutation in the COL2A1 gene was identified in our laboratory, was studied and correlated with the abnormal genotype. The COL2A1 genotyping involved DHPLC analysis with subsequent sequencing of the abnormal fragments. Six different mutations (R75C, R365C, R519C, R704C, R789C, R1076C) were found in 11 unrelated probands. Each mutation resulted in a rather constant and site-specific phenotype, but a perinatally lethal disorder was never observed. Spondyloarthropathy with normal stature and no ocular involvement were features of patients with the R75C, R519C, or R1076C mutation. Short third and/or fourth toes was a distinguishing feature of the R75C mutation and brachydactyly with enlarged finger joints a key feature of the R1076C substitution. Stickler dysplasia with brachydactyly was observed in patients with the R704C mutation. The R365C and R789C mutations resulted in classic Stickler dysplasia and spondyloepiphyseal dysplasia congenita (SEDC), respectively. Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies.
  Journal of Medical Genetics 06/2006; 43(5):406-13. · 6.36 Impact Factor
• Source

  Available from: nih.gov

  Article: Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.

  G R Mortier, P P G Kramer, A Giedion, F A Beemer
  Journal of Medical Genetics 04/2003; 40(3):201-7. · 6.36 Impact Factor
• Article: Short-limbed dwarfism with coning of the femoral heads and short tubular bones in a 6 year old boy

  F A Beemer, P.P.G. Kramer, A Giedion
• Article: The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

  K. P. Hoornaert, C. Dewinter, I. Vereecke, F A Beemer, A Zankl, et al
• Article: Premature epimetaphyseal fusion in hands and hips as the key radiographic manifestation in a 'new' metaphyseal chondrodysplasia

  F A Beemer, P.P.G. Kramer, A Giedion, GR Mortier
• Article: Homozygous mutations in IHH cause acrocapito-femoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

  J Hellemans, P J Coucke, A Giedion, A De Paepe, P.P.G. Kramer, F A Beemer, G R Mortier
• Article: Premature epimetaphyseal fusion in hands and hips as the key radiographic manifestation in a 'new' metaphyseal chondrodysplasia

  GR Mortier, P.P.G. Kramer, J Hellemans, A Giedion, F A Beemer
• Article: The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

  K. Hoornaert, C. Dewinter, I. Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A. Muellner-Eidenboeck, D L Rimoin, L. Siderius, A Superti-Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, G R Mortier
• Article: Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

  GR Mortier, P.P.G. Kramer, A Giedion, F A Beemer