Table of contents

Online mutation reports

• Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene

  (2 February, 2004)

  M Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, M Vikkula
• Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity (2 February, 2004)

  P Cerruti Mainardi, G Pastore, C Zweier, A Rauch
• Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype (2 February, 2004)

  M M O Tonini, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, M Zatz
• Loss of five amino acids in BRCA2 is associated with ovarian cancer

  (2 February, 2004)

  S L Martinez, J Herzog, J N Weitzel
• Mitochondrial DNA deletion in “identical” twin brothers (2 February, 2004)

  E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull
• Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

  (2 February, 2004)

  S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt
• Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families

  (2 February, 2004)

  D G R Evans, S L Neuhausen, M Bulman, K Young, D Gokhale, F Lalloo