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21 Possible Causes for Mutation in the CHST8 Gene

  • Peeling Skin Syndrome Type A

    Etiology A mutation in the CHST8 gene (19q13.1) encoding GalNAc4-ST1, a transmembrane sulfotransferase has been identified in one family.[orpha.net] Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM: Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive[karger.com] Mutations in the CHST8 gene, in the SERPINB8 gene, and most recently, the FLG2 gene that encodes filaggrin, have been found.[visualdx.com]

  • Peeling Skin Syndrome

    Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.[ncbi.nlm.nih.gov] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 2012;99:202-8.[doi.org] Molecular analysis for mutations in the CHST8 gene is indicated to confirm the diagnosis.[dermatologyadvisor.com]

  • Ichthyosis Vulgaris

    FLG Specificity 100 % Genes 50 % Ichthyosis Vulgaris (p.Arg501* and p.Ser761Cysfs*36 frequent mutations on FLG gene). By CGC Genetics (Portugal).[mendelian.co] ST14, STS, SULT2B1, TGM1, TGM5, ALOXE3, ABCA12, CASP14, CHST8, CDSN, POMP, PNPLA1, LIPN, CERS3, CSTA, CYP4F22, NIPAL4, FLG, KDSR, GJA1 , (...)[mendelian.co]

  • Exfoliation Syndrome

    Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8.[rarediseases.org]

  • Acral Peeling Skin Syndrome

    Molecular analysis for mutations in the CHST8 gene is indicated to confirm the diagnosis.[dermatologyadvisor.com] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 2012;99:202-8.[idoj.in] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8.[rarediseases.org]

  • Generalized Peeling Skin Syndrome

    Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM: Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive[karger.com] Molecular analysis for mutations in the CHST8 gene is indicated to confirm the diagnosis.[dermatologyadvisor.com] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 2012;99:202-8.[idoj.in]

  • Epidermolysis Bullosa

    gene assignment to be identified by XomeDxSlice - EB testing.[genedx.com] Tests Available Epidermolysis Bullosa (EB) XomeDxSlice Forms and Documents Test Details Genes: Expand Genes CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5[genedx.com] […] challenging and a skin biopsy studied with antibodies to the various skin proteins by indirect immunofluorescence can help elucidate the type of EB and to inform the testing and mutation[genedx.com]

  • Junctional Epidermolysis Bullosa

    gene assignment to be identified by XomeDxSlice - EB testing.[genedx.com] Tests Available Epidermolysis Bullosa (EB) XomeDxSlice Forms and Documents Test Details Genes: Expand Genes CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5[genedx.com] […] challenging and a skin biopsy studied with antibodies to the various skin proteins by indirect immunofluorescence can help elucidate the type of EB and to inform the testing and mutation[genedx.com]

  • Exfoliative Ichthyosis

    Molecular analysis for mutations in the CHST8 gene is indicated to confirm the diagnosis.[dermatologyadvisor.com] Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8.[rarediseases.org] This syndrome is caused by a homozygous missense mutation in the CHST8 gene, leading to an amino acid substitution in the protein.[dermatologyadvisor.com]

  • Young Simpson Syndrome

    Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics. 2012 Apr;99(4):202-8.[rarediseases.org]

Further symptoms