PELIZAEUS-MERZBACHER-DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON-5 OF THE PROTEOLIPID PROTEIN GENE

Single-strand conformational polymorphism analysis of an affected male with Pelizaeus-Merzbacher disease (PMD) showed a slight change in mob ility of amplified exon 5 of the proteolipid protein (PLP) gene. The e xon was sequenced and a G-->A transition at codon 216 was found, This mutation eliminates a BstNI restriction site and creates a MaeI restri ction site, In 1989, Gencic et al, reported a mutation that destroyed the same BstNI site, but resulted in a substitution at codon 215 [Am J Hum Genet 45:435-442]. The mutation we report here is also present in the patient's mother and her male fetus as determined by polymerase c hain reaction analysis of amniocytes. (C) 1995 Wiley-Liss, Inc.