About: Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

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About: Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene Goto Sponge Distinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We examined 11 families with novel MPZ mutations. Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c. 645+ 1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non-pathogenic/rare polymorphisms because they are present in healthy relatives. The character of the V46M mutation is difficult to interpret definitely; it may cause a sensory neuropathy or may also be a rare polymorphism. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot deformities and mild or even absent atrophies in the lower limbs. We examined 11 families with novel MPZ mutations. Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c. 645+ 1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non-pathogenic/rare polymorphisms because they are present in healthy relatives. The character of the V46M mutation is difficult to interpret definitely; it may cause a sensory neuropathy or may also be a rare polymorphism. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot deformities and mild or even absent atrophies in the lower limbs. (en)
Title	Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene (en)
skos:prefLabel	Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene (en)
skos:notation	RIV/00064203:_____/10:6246!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	P S
http://linked.open...avai/riv/aktivity	P(NS10552), S
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Seeman, Pavel Mazanec, Radim Haberlová, Jana Brožková, Dana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	250954
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6246
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CMT; CMT1B; hereditary neuropathy; HMSN III; MPZ; P0; marie-tooth-disease; hereditary neuropathy; pressure palsies; late-onset; phenotypes; liability; 1b (en)
http://linked.open.../riv/klicoveSlovo	liability phenotypes late-onset MPZ CMT 1b CMT1B HMSN III P0 hereditary neuropathy marie-tooth-disease pressure palsies
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[7CA1268B0D62]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Analysis of the BSCL 2 gene and a clinical study among Czech patients with hereditary motor neuropathy.
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	78
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Mazanec, Radim Haberlová, Jana Brožková, Dana Sakmaryova, I.
http://linked.open...ain/vavai/riv/wos	000278397300013
issn	0009-9163
number of pages	7 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene

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