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9 Possible Causes for Mutation in the Heat Shock Transcription Factor 4

  • Lamellar Cataract

    The p.Arg116His mutation in the heat shock transcription factor-4 (HSF4) has been associated with age-related cataracts, but it is also seen in 2% of the normal population[ncbi.nlm.nih.gov] Genetics This type of congenital cataract may be caused by mutations in the heat-shock transcription factor-4 gene ( HSF4 ) located at 16q21-q22.1.[disorders.eyes.arizona.edu] METHODS: Mutations in the DNA binding domain (DBD) of the heat shock transcription factor 4 (HSF4) are known to be associated with early childhood autosomal dominant lamellar[ncbi.nlm.nih.gov]

  • Autosomal Recessive Congenital Cataract 5

    Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438) may result in both autosomal dominant and autosomal recessive congenital cataracts.[hal-riip.archives-ouvertes.fr] All exons and adjacent splice sites of the heat shock transcription factor 4 gene ( HSF4 ) were sequenced.[bmcmedgenet.biomedcentral.com] Sequencing of the candidate genes showed a heterozygous c.69 G T change in the heat shock transcription factor 4 ( HSF4 ) gene, which resulted in the substitution of a lysine[g3journal.org]

  • Coronary Cataract

    transcription factor-4 (HSF4), aquaporin-0 (AQP0, MIP), and beaded filament structural protein-2 (BFSP2) [2], [3].[journals.plos.org] It has been reported that about half of mutations in crystallins and a quarter in connexins (gap junction proteins), with the remainder divided among the genes for heat shock[journals.plos.org]

  • Early-Onset Nuclear Cataract

    Genetics This type of congenital cataract may be caused by mutations in the heat-shock transcription factor-4 gene ( HSF4 ) located at 16q21-q22.1.[disorders.eyes.arizona.edu]

  • Anterior Polar Cataract

    , gamma D crystallin ( CRYGD ), eyes absent homolog 1 ( EYA1 ), major intrinsic protein of lens fiber ( AQP0 ), heat shock transcription factor 4 ( HSF4 ), and beta B1crystallin[molvis.org] They are also a fairly common result of mutations in CRYAA, including the one described here [ 5 ]. To our knowledge, APC pedigree is rare.[molvis.org] Anterior polar cataracts are relatively uncommon, but have been described in association with mutations in EPH receptor A2 ( EPHA2 ), alpha 8 gap junction protein ( GJA8 )[molvis.org]

  • Cerulean Cataract

    Sequencing of the candidate genes showed a heterozygous c.69 G T change in the heat shock transcription factor 4 ( HSF4 ) gene, which resulted in the substitution of a lysine[g3journal.org] transcription factor-4 (HSF4), aquaporin-0 (AQP0, MIP), and beaded filament structural protein-2 (BFSP2) [2], [3].[journals.plos.org] This mutation cosegregated with all affected individuals and was not observed in unaffected family members. Bioinformatics analysis indicated that the p.[g3journal.org]

  • Congenital Cerulean Cataract Type 5

    Other mutations have been identified in heat shock transcription factor-4 (HSF4), aquaporin-0 (AQP0, MIP), v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF[medsci.org] […] of cases and mutations in genes for heat shock transcription factor-4, aquaporin-0, and beaded filament structural protein-2 account for the remaining 25%.[aao.org] Sequencing of the candidate genes showed a heterozygous c.69 G T change in the heat shock transcription factor 4 ( HSF4 ) gene, which resulted in the substitution of a lysine[g3journal.org]

  • Autosomal Dominant Classic Optic Atrophy

    About half have mutations in crystallins, about a quarter have mutations in connexins, with the remainder divided among the genes for heat shock transcription factor 4 (HSF4[djo.org.in] […] three-generation family with reciprocal translocation between chromosomes 2p22 and 16pl3. 48 Over 26 of the 39 mapped loci for congenital cataract have been associated with mutations[djo.org.in]

  • Cataract - Microcornea Syndrome

    Sequencing of the candidate genes showed a heterozygous c.69 G T change in the heat shock transcription factor 4 ( HSF4 ) gene, which resulted in the substitution of a lysine[g3journal.org] This mutation cosegregated with all affected individuals and was not observed in unaffected family members. Bioinformatics analysis indicated that the p.[g3journal.org]

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