A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease |
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| Authors: | Victoria M Pratt James A Trofatter Albert Schinzel S R Dlouhy P M Conneally M E Hodes |
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| Institution: | Department of Medical Genetics, Indiana University School of Medicine, Indianapolis |
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| Abstract: | A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus–Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family. |
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| Keywords: | Pelizaeus– Merzbacher disease X chromosome missense mutation proteolipid protein PLP gene |
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