title: ERCC6 founder mutation identified in Finnish patients with COFS syndrome.
abstract: Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients have been published previously in 1982 as the first cases exhibiting cerebral calcifications typical for this disorder. Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB)] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases. Genealogical investigation showed a common ancestor living in a northeastern village in Finland in the 18th century for all six patients implying a founder effect.
authors.affiliation: Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland. elisa.jaakkola@ppshp.fi
authors.forename: E
authors.initials: E
authors.lastname: Jaakkola
authors.forename: A
authors.initials: A
authors.lastname: Mustonen
authors.forename: P
authors.initials: P
authors.lastname: Olsen
authors.forename: S
authors.initials: S
authors.lastname: Miettinen
authors.forename: T
authors.initials: T
authors.lastname: Savuoja
authors.forename: A
authors.initials: A
authors.lastname: Raams
authors.forename: N G J
authors.initials: NG
authors.lastname: Jaspers
authors.forename: H
authors.initials: H
authors.lastname: Shao
authors.forename: B L
authors.initials: BL
authors.lastname: Wu
authors.forename: J
authors.initials: J
authors.lastname: Ignatius
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000235:genetics; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000235:genetics; D003241:Consanguinity; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes / Q000235:genetics*; D005387:Finland; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D000075223:Poly-ADP-Ribose Binding Proteins; D013577:Syndrome
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes