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A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease

โœ Scribed by Chiaki Kawanishi; Hitoshi Osaka; Kenji Owa; Ken Inoue; Tomohiro Miyakawa; Hideki Onishi; Yoshiteru Yamada; Kyoko Suzuki; Seiji Kimura; Kenji Kosaka

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
84 KB
Volume
9
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of this gene (Roberts et al., 1994).

๐Ÿ“œ SIMILAR VOLUMES

New variant in exon 3 of the proteolipid
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease
โœ Pratt, Victoria M. ;Trofatter, James A. ;Larsen, Marianne B. ;Hodes, M. E. ;Dlou ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 357 KB ๐Ÿ‘ 1 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

Family with Pelizaeus-Merzbacher disease
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
โœ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 2 views

We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct