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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F14%3A10292832%21RIV15-MSM-11130___
rdf:type
n14:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1186/1750-1172-9-46
dcterms:description
Background: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c. 863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. Methods: We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. Results: All patients are homozygous for the c. 863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. Conclusions: Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation. Background: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c. 863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. Methods: We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. Results: All patients are homozygous for the c. 863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. Conclusions: Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.
dcterms:title
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies
skos:prefLabel
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies
skos:notation
RIV/00216208:11130/14:10292832!RIV15-MSM-11130___
n3:aktivita
n6:I
n3:aktivity
I
n3:cisloPeriodika
neuveden
n3:dodaniDat
n5:2015
n3:domaciTvurceVysledku
n9:8705879 n9:9760091 n9:9009760 n9:8498008 n9:8510210
n3:druhVysledku
n10:J
n3:duvernostUdaju
n12:S
n3:entitaPredkladatele
n19:predkladatel
n3:idSjednocenehoVysledku
8617
n3:idVysledku
RIV/00216208:11130/14:10292832
n3:jazykVysledku
n18:eng
n3:klicovaSlova
Face/*abnormalities; Facial nerve diseases/*congenital/genetics; Nervous system diseases/*genetics; Cataract/congenital; Gypsies/genetics
n3:klicoveSlovo
n4:Nervous%20system%20diseases%2F%2Agenetics n4:Cataract%2Fcongenital n4:Gypsies%2Fgenetics n4:Face%2F%2Aabnormalities n4:Facial%20nerve%20diseases%2F%2Acongenital%2Fgenetics
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[8958D6B7ECFF]
n3:nazevZdroje
Orphanet Journal of Rare Diseases
n3:obor
n13:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
6
n3:rokUplatneniVysledku
n5:2014
n3:svazekPeriodika
9
n3:tvurceVysledku
Sakmaryová, Iva Haberlová, Jana Laššuthová, Petra Seeman, Pavel Filouš, Aleš Siskova, Dana
n3:wos
000335257500001
s:issn
1750-1172
s:numberOfPages
10
n17:doi
10.1186/1750-1172-9-46
n16:organizacniJednotka
11130