A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family

Autor: R.F.M. de Coo, I.J. de Wijs, B.A. van Oost, L.M.E. Smit, Erik A. Sistermans, F.H. Menko
Přispěvatelé: Human genetics, Amsterdam Reproduction & Development (AR&D)
Rok vydání: 1996
Předmět:
Adult
Male
Proteolipid protein 1
klinisch
cytogenetisch en moleculair onderzoek naar de betrokken genen en hun functie [X-chromosomale mentale retardatie (XMR)]
Molecular Sequence Data
Codon
Initiator
chemical and pharmacologic phenomena
Biology
medicine.disease_cause
Start codon
immune system diseases
Gene expression
Genetics
medicine
Humans
Myelin Proteolipid Protein
Gene
GeneralLiterature_REFERENCE(e.g.
dictionaries
encyclopedias
glossaries)
Genetics (clinical)
Netherlands
Mutation
Base Sequence
Pelizaeus–Merzbacher disease
Diffuse Cerebral Sclerosis of Schilder
medicine.disease
Phenotype
Oligodendrocyte
nervous system diseases
Pedigree
clinical
cytogenetic and molecular studies into the relevant gene and their function [X-chromosomal mental retardation (XMR)]
medicine.anatomical_structure
lipids (amino acids
peptides
and proteins)
Female
Zdroj: Human Genetics, 97(3), 337-339. Springer Verlag
Human Genetics, 97, 337-339
Human Genetics, 97, pp. 337-339
Human Genetics, 97, 3, pp. 337-339
Sistermans, E A, De Wijs, I J, De Coo, R F M, Smit, L M E, Menko, F H & Van Oost, B A 1996, ' A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family ', Human Genetics, vol. 97, no. 3, pp. 337-339 . https://doi.org/10.1007/BF02185767
ISSN: 0340-6717
DOI: 10.1007/BF02185767
Popis: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from mutations in the proteolipid protein (PLP) gene. Mutations causing either overexpression or expression of a truncated form of PLP result in oligodendrocyte cell death because of accumulation of PLP in the endoplasmic reticulum. It has therefore been hypothesized that absence of the protein should result in a less severe phenotype. However, until now, only one patient has been described with a complete deletion of the PLP gene. We report a Dutch family with a relatively mild form of PMD, in which the disease cosegregates with a (G-to-A) mutation in the initiation codon of the PLP gene. This mutation should cause the total absence of PLP and is therefore in agreement with the hypothesis that absence of PLP leads to a mild form of PMD.
Databáze: OpenAIRE
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