• Corpus ID: 82141314

Molecular genetic and functional analyses of X-linked congenital cataract.

  title={Molecular genetic and functional analyses of X-linked congenital cataract.},
  author={Simon Philip Brooks},
Nance-Horan Syndrome (NHS) is an X-linked developmental syndrome characterised by congenital cataract, dental anomalies, and dysmorphological features often associated with mental retardation. The NHS locus on Xp22.13 is encompassed by the disease locus for X- linked congenital cataract (CXN). Analysis of microsatellites within the CXN family resulted in refinement of the CXN disease interval, reducing the region of overlap between the CXN and NHS disease loci. Candidate genes in the… 


Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
Direct sequencing or SSCP analysis of the coding exons of five genes, considered as candidate genes on the basis of their location in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, thus making it highly unlikely that these genes are implicated in NHS.
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
The clinical phenotype of the truncating mutation (Q39X) in the NHS gene suggests allelic heterogeneity at the NHS locus or the presence of modifier genes, and X-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome.
A locus for isolated cataract on human Xp
This is the first report of a locus for isolated inherited cataract on the X chromosome and the apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.
Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.
The results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the X cataract phenotype.
Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
Evidence is described for a new locus for XLRP (RP23), adding to the established genetic heterogeneity for this disease and the number of genes expressed in ocular tissue residing on the X-chromosome.
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.
This is the first report of a family with autosomal dominant inheritance of keratoconus in association with cataract, and in this family both disorders were present and fully penetrant in those affected.
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
The critical region as defined by the shared haplotype in this family is clearly centromeric from the Volkmann cataract locus identified through study of a Danish family, indicating that two genes causing autosomal dominant congenital cataracts map to the telomeric region of chromosome 1p.
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22 and the first description of HSF 4 splice variants in the lens showing that HSF3b is the major transcript.
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans and results in a glycine to valine residue (GTC) substitution in codon 18 (NP_060011).
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
Genetic linkage studies in four consanguineous Pakistani families with non-syndromic autosomal recessive congenital cataracts confirmed that mutations in HSF4 may result in both autosomal dominant and autosomal recombinant cataract, and highlight the locus heterogeneity in autosomic recessive Congenital Cataract.