Saethre-Chotzen syndrome and hyper IgE syndrome in a patient with a novel 11 bp deletion of the TWIST gene

Molecular genetic studies in a seven-year-old boy and his mother demonstrat ed a novel 11 bp deletion in the TWIST gene (127del11), causing Saethre-Cho tzen syndrome. The mother had rather mild signs of the Saethre-Chotzen synd rome; however, her son presented with marked acrocephalosyndactyly type 3, leading to craniotomy at three years. He also had recurrent infections and laboratory findings comparable with the hyper IgE syndrome, a rare primary immunodeficiency disorder. It is likely that the 11bp deletion caused the S aethre-Chotzen syndrome in the patient and his mother, and another, not yet identified genetic defect, seen in the patient but not in the mother, is r esponsible for the hyper IgE phenotype. A combination of these two congenit al conditions has not been described to date. (C) 2001 Wiley-Liss, Inc.