Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies

. 2014 Apr 01 ; 9 () : 46. [epub] 20140401

Jazyk angličtina Země Anglie, Velká Británie Médium electronic

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/pmid24690360

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.

Zobrazit více v PubMed

Kalaydjieva L, Chamova T. Congenital Cataracts, Facial Dysmorphism, and Neuropathy. GeneReviews; 2012. 2012/08/16 [cited 2012/11/14]; Available from: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20301787.

Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol. 1999;45:742–750. doi: 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N. PubMed DOI

Mullner-Eidenbock A, Moser E, Klebermass N, Amon M, Walter MC, Lochmuller H, Gooding R, Kalaydjieva L. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology. 2004;111:1415–1423. doi: 10.1016/j.ophtha.2003.11.007. PubMed DOI

Kalaydjieva L, Lochmuller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Müllner-Eidenböck A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L. 125th ENMC international workshop: neuromuscular disorders in the Roma (Gypsy) population, 23–25 April 2004, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:65–71. doi: 10.1016/j.nmd.2004.09.008. PubMed DOI

Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphan J Rare Dis. 2006;1:32. doi: 10.1186/1750-1172-1-32. PubMed DOI PMC

Mastroyianni SD, Garoufi A, Voudris K, Skardoutsou A, Stefanidis CJ, Katsarou E, Gooding R, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis. Eur J Pediatr. 2007;166:747–749. doi: 10.1007/s00431-006-0307-9. PubMed DOI

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003;35:185–189. doi: 10.1038/ng1243. PubMed DOI

Marushiakova E, Vesselin P. In: Proceedings of International Conference “Romani Mobilities in Europe: Multidisciplinary Perspectives. Sigona N, editor. 2010. Gypsy/Roma European migrations from 15th century till nowadays. [cited 2013/05/28]; Avialable from: http://www.academia.edu/1132677/Gypsy_Roma_European_migrations_from_15th_century_till_nowadays.

Kalaydjieva L, Gresham D, Calafell F. Genetic studies of the Roma (Gypsies): a review. BMC Med Genet. 2001;2:5. PubMed PMC

Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Mutation history of the roma/gypsies. Am J Hum Genet. 2004;75:596–609. doi: 10.1086/424759. PubMed DOI PMC

Fesus G, Ostlin P, McKee M, Adany R. Policies to improve the health and well-being of Roma people: the European experience. Health Policy. 2012;105:25–32. doi: 10.1016/j.healthpol.2011.12.003. PubMed DOI

Hajioff S, McKee M. The health of the Roma people: a review of the published literature. J Epidemiol Community Health. 2000;54:864–869. doi: 10.1136/jech.54.11.864. PubMed DOI PMC

Šišková D. Hereditární neuropatie s kongenitální kataraktou a faciální dysmorfií (in Czech) Neurologie Pro Praxi. 2002;4:187–189.

Haberlová J, Seeman P. In: Kazuistiky z molekulární genetiky. 1. Lebl J, Macek M, editor. Prague: Galén; 2006. Lucie, romská dívka s vrozenou kataraktou a psychomotorickým opožděním (in Czech) pp. 138–140.

Koschin F, Fiala T, Langhamrová J, Roubíček V. Plodnost v českých zemích v devadesátých letech (In Czech) 2001. [cited 2013/05/28]; Available from: http://kdem.borec.cz/Plodnost_v90_letech.pdf.

Nesvadbová L, Šandera J, Haberlová V. Romská populace a zdraví. Česká republika – Národní zpráva 2009. 2009. [cited 2014/01/06]; Available from: http://www.vlada.cz/assets/ppov/zalezitosti-romske-komunity/dokumenty/Sastipen.pdf.

ČSÚ. Ročenka 2011, Obyvatelstvo - vybrané ukazatele. 2013. [cited 2014/01/06]; Available from: http://www.czso.cz/csu/redakce.nsf/i/obyvatelstvo_lide.

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...