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JMD 2000, Vol. 2, No. 3
Copyright © 2000 American Society for Investigative Pathology & Association for Molecular Pathology

Novel Polymorphism in the FMR1 Gene Resulting in a "Pseudodeletion" of FMR1 in a Commonly Used Fragile X Assay

Thomas M. Daly*,{dagger}, Arash Rafii{ddagger}, Rick A. Martin§ and Barbara A. Zehnbauer*,{dagger},§

From the Division of Laboratory Medicine, * Department of Pathology, {dagger} and the Departments of Surgery {ddagger} and Pediatrics, § Washington University School of Medicine and St. Louis Children’s Hospital, St. Louis, Missouri

The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat expansion, deletion of various portions of FMR1 has also been described in association with the fragile X syndrome. Here we describe a rare polymorphism in the noncoding region of FMR1 that mimics detection of a deletion in a commonly used assay for fragile X syndrome, which can result in misdiagnosis of the disease.




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