title: Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
abstract: Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the ribonucleic acid transcription machinery. This report presents a young Gypsy female affected by this rare disorder. Electromyography and sural nerve histology were in accordance with a hypomyelinating neuropathy. After clinical recognition of congenital cataracts facial dysmorphism neuropathy syndrome some years ago, we recently demonstrated the presence of the homozygous IVS6+389C-->T mutation in the CTDP1 gene in this family.
authors.affiliation: Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
authors.forename: George
authors.initials: G
authors.lastname: Shabo
authors.forename: Hans
authors.initials: H
authors.lastname: Scheffer
authors.forename: Johannes R M
authors.initials: JR
authors.lastname: Cruysberg
authors.forename: Martin
authors.initials: M
authors.lastname: Lammens
authors.forename: Jaco W
authors.initials: JW
authors.lastname: Pasman
authors.forename: Maarten
authors.initials: M
authors.lastname: Spruit
authors.forename: Michèl A A P
authors.initials: MA
authors.lastname: Willemsen
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009431:Neural Conduction; D010749:Phosphoprotein Phosphatases / Q000235:genetics*; D017354:Point Mutation; D006178:Romani People / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome
chemical_list: D010749:Phosphoprotein Phosphatases; C116022:carboxy-terminal domain phosphatase