Abstract
We describe the case of a patient with transcobalamin II deficiency, hypogammaglobulinemia, absent corpus callosum, and mental retardation who presented at an early age with colorectal cancer and multifocal anaplastic astrocytoma. He was found to have a possible germline mutation of the PMS2 gene, as evidenced by absent protein expression in both normal and tumor tissues. His parents were found to be carriers of a nonsense mutation of the PMS2 gene.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adenosine Triphosphatases / genetics*
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Adolescent
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Adult
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Astrocytoma / genetics*
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Astrocytoma / pathology
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Brain / pathology
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Child
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Child, Preschool
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Colon / pathology
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Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
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Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
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Corpus Callosum / pathology
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DNA Mutational Analysis
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DNA Repair Enzymes / genetics*
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DNA-Binding Proteins / genetics*
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Humans
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Immunohistochemistry
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Male
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Mismatch Repair Endonuclease PMS2
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Mutation
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Pedigree
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Polymorphism, Single Nucleotide
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Transcobalamins / deficiency
Substances
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DNA-Binding Proteins
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Transcobalamins
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Adenosine Triphosphatases
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PMS2 protein, human
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Mismatch Repair Endonuclease PMS2
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DNA Repair Enzymes