title: [Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report].
abstract: The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia. This disorder is caused by a homozygous mutation of the carboxy-terminal domain phosphatase 1 (CTDP1) gene, localized to the 18q23 region. Authors present one genetically identified case in a large Roma family. The case documents that the CCFDN mutation is present also in the Hungarian Roma population. Underlie of antropomorphological data the authors presume that the CCFDN mutation reached Hungary as a result of emigration of Vlax Gypsies in the 18th century. The paper calls attention to the fact that molecular genetic diagnostics can replace invasive methods and makes possible the identification of heterozygotes without clinical symptoms. The introduction of the genetic screening enables us to perform genetic counselling and prevention in this high-risk population.
authors.affiliation: Országos Pszichiátriai es Neurológiai Intézet, Molekuláris Neurológiai Osztály, 1021 Budapest. evasiska@t-online.hu
authors.forename: Eva
authors.initials: E
authors.lastname: Siska
authors.forename: Magdolna
authors.initials: M
authors.lastname: Neuwirth
authors.forename: Gooding
authors.initials: G
authors.lastname: Rebecca
authors.forename: Mária Judit
authors.initials: MJ
authors.lastname: Molnár
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002386:Cataract / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D005155:Facial Nerve Diseases / Q000151:congenital*; D005260:Female; D006801:Humans; D006814:Hungary; D007223:Infant; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010749:Phosphoprotein Phosphatases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D054645:Protein Phosphatase 1; D011597:Psychomotor Performance; D006178:Romani People / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D016138:Walking
chemical_list: D009687:Nuclear Proteins; C413483:CTDSP1 protein, human; D010749:Phosphoprotein Phosphatases; D054645:Protein Phosphatase 1