Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
نویسندگان
چکیده
منابع مشابه
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
We describe five boys from different families with an atypically severe form of Pelizaeus-Merzbacher disease (PMD) who have three, and in one case, five copies of the proteolipid protein (PLP1) gene. This is the first report of more than two copies of PLP1 in PMD patients and clearly demonstrates that severe clinical symptoms are associated with increased PLP1 gene dosage. Previously, duplicati...
متن کاملPosition effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms.
P elizaeus-Merzbacher disease (PMD, MIM 312080) is an X linked disorder characterised by dysmyelination of the central nervous system (CNS) 2 (see review by Koeppen and Robitaille). Two main forms of the disease, a connatal and a classical type, are recognised. The connatal type has a severe course with feeding problems, progressive pyramidal and extrapyramidal symptoms, laryngeal stridor, micr...
متن کاملCurcumin therapy in a Plp1 transgenic mouse model of Pelizaeus-Merzbacher disease
OBJECTIVE Pelizaeus-Merzbacher disease (PMD) is a progressive and lethal leukodystrophy caused by mutations affecting the proteolipid protein (PLP1) gene. The most common cause of PMD is a duplication of PLP1 and at present there is no curative therapy available. METHODS By using transgenic mice carrying additional copies of Plp1, we investigated whether curcumin diet ameliorates PMD symptoms...
متن کاملRole of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent sub-microscopic chromosomal rearrangements, or may result in genomic instability by forming structures susceptible to DNA double-strand breaks. Pelizaeus-Merzbacher disease (PMD) is a genomic disorder most commonly arising from genomic duplications of the dosage-sensitive p...
متن کاملPelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system. [1] It is one of a group of gene-linked disorders known as the leukodystrophies, which are all characterised by myelin sheath abnormalities. This is due to a mutation in the gene that controls the production of a myelin protein called proteolipid protein 1 (PLP1). The exact type of PLP1 ...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2021
ISSN: 2054-345X
DOI: 10.1038/s41439-021-00144-y