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Prenatal diagnosis by FISH in a family with Pelizaeus–Merzbacher disease caused by duplication of the PLP gene

✍ Scribed by Karen Woodward; Rodger Palmer; Kathleen Rao; Sue Malcolm

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
161 KB
Volume
19
Category
Article
ISSN
0197-3851

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✦ Synopsis

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 duplication of the PLP gene, by interphase FISH, in lymphocyte preparations from the proband, his aunt and an amniotic fluid cell preparation from the fetus. The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus-Merzbacher disease, but neither the aunt nor the fetus carried a duplication.

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New variant in exon 3 of the proteolipid
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✍ Pratt, Victoria M. ;Trofatter, James A. ;Larsen, Marianne B. ;Hodes, M. E. ;Dlou 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 357 KB 👁 2 views

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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We report a G→A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu