Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M
| Autor: | M. De Weers, Rudolf W. Hendriks, Ruud K. B. Schuurman, Margriet E. M. Kraakman, T. Espanol |
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| Rok vydání: | 2008 |
| Předmět: |
Male
X Chromosome Adolescent Genetic counseling CD40 Ligand Molecular Sequence Data Genetic Counseling Gene mutation Biology Immunodeficiency With Hyper-IgM Open Reading Frames Exon Hypergammaglobulinemia Genetics medicine Humans CD40 Antigens Gene Genetics (clinical) Immunodeficiency X chromosome Membrane Glycoproteins Base Sequence Immunologic Deficiency Syndromes DNA medicine.disease Virology Pedigree Mutagenesis Insertional Immunoglobulin M Mutation (genetic algorithm) Female |
| Zdroj: | Clinical Genetics. 48:46-48 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1995.tb04053.x |
| Popis: | A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic counselling of the family was performed, based on mutation detection by PCR/oligohybridization. |
| Databáze: | OpenAIRE |
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