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6 Possible Causes for Mutation in the XYLT1 Gene

  • Cataract

    The eye features were a notable part of this child's presentation and mutations in the linkeropathy genes (XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3) can be associated with[ncbi.nlm.nih.gov]

  • Coxa Valga

    Genetic Heterogeneity of Desbuquois Dysplasia DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12.[ncbi.nlm.nih.gov] Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.[ncbi.nlm.nih.gov]

  • Spondylocarpotarsal Synostosis

    Mutations in the linkeropathy genes ( XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 ) can be associated with ocular findings, including blue sclerae, refractive errors, corneal[rarediseases.org] It is inherited in an autosomal recessive fashion and results from a founder homozygous missense mutation in B4GALT7.[rarediseases.org]

  • Atelosteogenesis Type 2

    Mutations in the linkeropathy genes ( XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 ) can be associated with ocular findings, including blue sclerae, refractive errors, corneal[rarediseases.org] It is inherited in an autosomal recessive fashion and results from a founder homozygous missense mutation in B4GALT7.[rarediseases.org]

  • Desbuquois Syndrome

    Mutations in the linkeropathy genes ( XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 ) can be associated with ocular findings, including blue sclerae, refractive errors, corneal[rarediseases.org] It is inherited in an autosomal recessive fashion and results from a founder homozygous missense mutation in B4GALT7.[rarediseases.org]

  • Absence or Deformity of Leg- Cataract Syndrome

    Mutations in the linkeropathy genes ( XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 ) can be associated with ocular findings, including blue sclerae, refractive errors, corneal[rarediseases.org] It is inherited in an autosomal recessive fashion and results from a founder homozygous missense mutation in B4GALT7.[rarediseases.org]

Further symptoms