title: Further genetic heterogeneity for autosomal dominant human sutural cataracts.
abstract: A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent reason for isolated congenital cataracts, all 4 active CRYG genes have been sequenced. A single base-pair change in the CRYGA gene has been shown, leading to a premature stop codon. This was not observed in 170 control individuals. However, it did not segregate with the disease phenotype. This is the first truncating mutation in an active CRYG gene without a dominant phenotype. As the CRYGA mutation did not explain the cataract, several other candidate loci (CCV, GJA8, CRYBB2, BFSP2, MIP, GJA8, CENTRAL POUCH-LIKE, CRYBA1) were investigated by microsatellite markers and linkage analysis, but they were excluded based on the combination of haplotype analysis and two-point linkage analysis. The phenotype in this family is due to a mutation in another sutural cataract gene yet to be identified.
authors.affiliation: GSF National Research Center for Environment and Health, Institutes of Developmental Genetics, Neuherberg, Germany.
authors.forename: Norman
authors.initials: N
authors.lastname: Klopp
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
authors.forename: Gail
authors.initials: G
authors.lastname: Billingsley
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Matthias
authors.initials: M
authors.lastname: Wjst
authors.forename: Günther
authors.initials: G
authors.lastname: Rudolph
authors.forename: Jochen
authors.initials: J
authors.lastname: Graw
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D003459:Crystallins / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D003459:Crystallins; D005819:Genetic Markers; D004247:DNA