Abstract
We investigated the proteolipid protein (PLP) gene in two brothers in a Japanese family with a connatal form of Pelizaeus-Merzbacher disease (PMD). Direct sequencing of the PLP gene revealed an A-to-T transition in exon 4, which led to an Asp-to-Val substitution at re-sidue 202. Their mother was confirmed to be heterozygous for the mutation. The mutation was not found in 78 X-chromosomes of normal Japanese individuals. A correlation between the clinical severity of the disease in the brothers and the Asp202-to-Val mutation in the PLP gene was suggested.
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Received: April 24, 1998 / Accepted: May 29, 1998
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Nagao, M., Kadowaki, Ji. Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene. J Hum Genet 43, 206–208 (1998). https://doi.org/10.1007/s100380050072
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DOI: https://doi.org/10.1007/s100380050072
