Recurring HRAS mutation G12S in Dutch patients with Costello syndrome
Copyright policy )Recurring HRAS mutation G12S in Dutch patients with Costello syndrome
Abstract: Costello syndrome (CS) is a rare multiple congenital anomaly/mental retardation syndrome characterized by coarse face, loose skin and cardiomyopathy. It is often associated with benign and malignant tumors. Several groups have now demonstrated that CS is caused by recurring mutations in the HRAS gene in different ethnic groups. Here, we describe three unrelated Dutch patients and show that they all have the same mutation, G12S, in HRAS. To our knowledge, our patients are the first Dutch to be analysed. The syndrome seems to be genetically homogeneous. We discuss the pertinent nosology of the syndrome.
- Maastricht University Netherlands
- Radboud University Nijmegen Medical Centre Netherlands
- Leiden University Medical Center Netherlands
Adult, Male, DNA Mutational Analysis, Mutation, Missense, Syndrome, White People, Proto-Oncogene Proteins p21(ras), Child, Preschool, Humans, Abnormalities, Multiple, Female
Adult, Male, DNA Mutational Analysis, Mutation, Missense, Syndrome, White People, Proto-Oncogene Proteins p21(ras), Child, Preschool, Humans, Abnormalities, Multiple, Female
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