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Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease

✍ Scribed by Woodward, Karen ;Cundall, Maria ;Palmer, Rodger ;Surtees, Robert ;Winter, Robin M. ;Malcolm, Sue

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
304 KB
Volume
118A
Category
Article
ISSN
0148-7299

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A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonucleas

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A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for dupl