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

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Abstract
Molecular genetic studies in a seven‐year‐old boy and his mother demonstrated a novel 11 bp deletion in the TWIST gene (127del11), causing Saethre‐Chotzen syndrome. The mother had rather mild signs of the Saethre‐Chotzen syndrome; 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 Saethre‐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 responsible for the hyper IgE phenotype. A combination of these two congenital conditions has not been described to date.