title: Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
abstract: 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.
authors.affiliation: Department of Paediatric Neurology, DNA Laboratory 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. petra.lassuthova@gmail.com.
authors.forename: Petra
authors.initials: P
authors.lastname: Lassuthova
authors.forename: Dana
authors.initials: D
authors.lastname: Sišková
authors.forename: Jana
authors.initials: J
authors.lastname: Haberlová
authors.forename: Iva
authors.initials: I
authors.lastname: Sakmaryová
authors.forename: Aleš
authors.initials: A
authors.lastname: Filouš
authors.forename: Pavel
authors.initials: P
authors.lastname: Seeman
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000209:etiology*; D018153:Czech Republic; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology*; D006178:Romani People