Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292994" target="_blank" >RIV/00064203:_____/14:10292994 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10292994

Výsledek na webu

<a href="http://dx.doi.org/10.1177/0883073813492387" target="_blank" >http://dx.doi.org/10.1177/0883073813492387</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1177/0883073813492387" target="_blank" >10.1177/0883073813492387</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

Popis výsledku v původním jazyce

Pelizaeus-Merzbacher disease is a severe X-linked disorder of central myelination caused by mutations affecting the proteolipid protein gene. We describe 3 new PLP1 splicing mutations, their effect on splicing and associated phenotypes. Mutation c. 453_453+6del7insA affects the exon 3B donor splice site and disrupts the PLP1-transcript without affecting the DM20, was found in a patient with severe Pelizaeus-Merzbacher disease and in his female cousin with early-onset spastic paraparesis. Mutation c.191+1G>Acauses exon 2 skipping with a frame shift, is expected to result in a functionally null allele, and was found in a patient with mild Pelizaeus-Merzbacher disease and in his aunt with late-onset spastic paraparesis. Mutation c.696+1G>Autilizes a cryptic splice site in exon 5, causes partial exon 5 skipping and in-frame deletion, and was found in an isolated patient with a severe classical Pelizaeus-Merzbacher. PLP1 splice-site mutations express a variety of disease phenotypes mediated

Název v anglickém jazyce

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

Popis výsledku anglicky

Pelizaeus-Merzbacher disease is a severe X-linked disorder of central myelination caused by mutations affecting the proteolipid protein gene. We describe 3 new PLP1 splicing mutations, their effect on splicing and associated phenotypes. Mutation c. 453_453+6del7insA affects the exon 3B donor splice site and disrupts the PLP1-transcript without affecting the DM20, was found in a patient with severe Pelizaeus-Merzbacher disease and in his female cousin with early-onset spastic paraparesis. Mutation c.191+1G>Acauses exon 2 skipping with a frame shift, is expected to result in a functionally null allele, and was found in a patient with mild Pelizaeus-Merzbacher disease and in his aunt with late-onset spastic paraparesis. Mutation c.696+1G>Autilizes a cryptic splice site in exon 5, causes partial exon 5 skipping and in-frame deletion, and was found in an isolated patient with a severe classical Pelizaeus-Merzbacher. PLP1 splice-site mutations express a variety of disease phenotypes mediated

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

<a href="/cs/project/NT11521" target="_blank" >NT11521: Autosomálně recesívní typ dědičné neuropatie CMT4C - analýza genu SH3TC2 a klinicko genetická studie u českých pacientů s demyelinizačním typem neuropatie pro efektivní a cílenou diagnostiku a terapii CMT.</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Child Neurology

ISSN

0883-0738

e-ISSN

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Svazek periodika

29

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

924-931

Kód UT WoS článku

000340170000007

EID výsledku v databázi Scopus

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