PURPOSE: To identify the gene causing tarsal/carpal coalition syndrome (TCC). METHODS: Individuals from three kindreds with TCC and normal hearing were used to map TCC and screen for mutations in Noggin (NOG). RESULTS: Three different missense mutations in NOG were found. Two of these mutations are identical to mutations previously reported to cause proximal symphalangism (SYM1). CONCLUSIONS: TCC is allelic to SYM1, and at least two different mutations in NOG can result in either TCC or SYM1 in different families. This finding suggests that phenotypic differences between these conditions are caused by epistatic modifiers of NOG.
PURPOSE: To identify the gene causing tarsal/carpal coalition syndrome (TCC). METHODS: Individuals from three kindreds with TCC and normal hearing were used to map TCC and screen for mutations in Noggin (NOG). RESULTS: Three different missense mutations in NOG were found. Two of these mutations are identical to mutations previously reported to cause proximal symphalangism (SYM1). CONCLUSIONS: TCC is allelic to SYM1, and at least two different mutations in NOG can result in either TCC or SYM1 in different families. This finding suggests that phenotypic differences between these conditions are caused by epistatic modifiers of NOG.
Authors: Petra Seemann; Raphaela Schwappacher; Klaus W Kjaer; Deborah Krakow; Katarina Lehmann; Katherine Dawson; Sigmar Stricker; Jens Pohl; Frank Plöger; Eike Staub; Joachim Nickel; Walter Sebald; Petra Knaus; Stefan Mundlos Journal: J Clin Invest Date: 2005-08-25 Impact factor: 14.808
Authors: Ashley M Byrnes; Lemuel Racacho; Allison Grimsey; Louanne Hudgins; Andrea C Kwan; Michel Sangalli; Alexa Kidd; Yuval Yaron; Yu-Lung Lau; Sarah M Nikkel; Dennis E Bulman Journal: Eur J Hum Genet Date: 2009-03-11 Impact factor: 4.246
Authors: K Lehmann; P Seemann; F Silan; T O Goecke; S Irgang; K W Kjaer; S Kjaergaard; M J Mahoney; S Morlot; C Reissner; B Kerr; A O M Wilkie; S Mundlos Journal: Am J Hum Genet Date: 2007-06-08 Impact factor: 11.025