About: L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

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About: L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	In this study, we identified the L239F mutation in the GDAP1 gene in one Bulgarian and five Polish families. We hypothesized that the L239F mutation may result from a founder effect in the European population since this mutation has previously been reported in Belgian, Czech, and Polish patients. In fact, we detected a common disease-associated haplotype within the 8q13-q21 region in the Polish, German, Italian, Czech, and Bulgarian CMT families. Like the previously detected %22regional%22 S194X and Q163X mutations, respectively present in Maghreb countries and in patients of Spanish descent, the L239F mutation seems to be the most common GDAP1 pathogenic variant in the Central and Eastern European population. Given the likely presence of a common ancestor harboring the L239F mutation, we decided to compare the phenotypes of the CMT (L239F) patients collected in this study with those of previously reported cases. In this study, we identified the L239F mutation in the GDAP1 gene in one Bulgarian and five Polish families. We hypothesized that the L239F mutation may result from a founder effect in the European population since this mutation has previously been reported in Belgian, Czech, and Polish patients. In fact, we detected a common disease-associated haplotype within the 8q13-q21 region in the Polish, German, Italian, Czech, and Bulgarian CMT families. Like the previously detected %22regional%22 S194X and Q163X mutations, respectively present in Maghreb countries and in patients of Spanish descent, the L239F mutation seems to be the most common GDAP1 pathogenic variant in the Central and Eastern European population. Given the likely presence of a common ancestor harboring the L239F mutation, we decided to compare the phenotypes of the CMT (L239F) patients collected in this study with those of previously reported cases. (en)
Title	L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype (en)
skos:prefLabel	L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype (en)
skos:notation	RIV/00216208:11130/10:6271!RIV11-MZ0-11130___
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(1A8254)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Seeman, Pavel Baránková, Lucia
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	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	269083
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/10:6271
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Phenotype-genotype correlations in CMT4A disease; Founder effect; The L239F mutation in the GDAP1 gene; differentiation-associated protein-1; autosomal recessive cmt; glutathione transferase; vocal cord; disease; gene; family; neuropathy; identification; variability (en)
http://linked.open.../riv/klicoveSlovo	family variability Founder effect disease gene identification neuropathy Phenotype-genotype correlations in CMT4A disease The L239F mutation in the GDAP1 gene autosomal recessive cmt differentiation-associated protein-1 glutathione transferase vocal cord
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[E03B540703CD]
http://linked.open...i/riv/nazevZdroje	Neuroimage
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	17 (xsd:int)
http://linked.open...vavai/riv/projekt	Detection of mutations in the GDAP1, LITAF, PRX and NEFL genes as newly discovered possible causes of inherited neuropaties Charcot-Marie-Tooth - extended investigation in the large cohort of at least 300 Czech families without the most common mutations.
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	11
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Jordanova, A. Baránková, Lucia Kabzinska, D. Timmerman, V. Baets, J. De Jonghe, P. Guergueltcheva, V. Hausmanowa-Petrusewicz, I. Kochanski, A. Kostera-Pruszczyk, A. Midro, A. Ryniewicz, B. Sarafov, S. Strugalska-Cynowska, H. Tournev, I. Zimon, M.
http://linked.open...ain/vavai/riv/wos	000278942200009
issn	1053-8119
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

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