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7 Possible Causes for Mutation in the SET Binding Protein 1 Gene

  • Mental Retardation

    The critical deleted region contains SETBP1 gene (SET binding protein 1).[] Missense heterozygous mutations in this gene cause Schinzel-Giedion syndrome (SGS, MIM#269150), characterized by profound mental retardation and multiple congenital malformations[]

  • Chronic Neutrophilic Leukemia

    These findings, as well as other gene mutations recently found to be implicated in CNL, such as mutations in set binding protein 1 (SETBP1) and JAK2, have culminated in a[] This raises the possibility of ineffectiveness of JAK inhibitors in CSF3R mutated CNL cases harboring SETBP1 mutation [5].[]

  • Sotos Syndrome

    […] receptor-binding SET domain containing protein 1 (NSD1) gene.[] The syndrome is caused by mutations or deletions of the nuclear receptor binding SET domain protein 1 (NSD1) gene, which encodes a histone methyltransferase implicated in[] It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear receptor-binding SET Domain protein 1) on chromosome 5q35.2-35.3 in 90% of the patients: Sotos[]

  • Unilateral Renal Agenesis

    We identified a de novo missense mutation of the NSD1 (nuclear receptor-binding SET domain protein 1) gene in this patient.[] Computational three-dimensional structural analysis revealed that the NSD1 mutation induced major alterations.[]

  • Baraitser-Winter Syndrome 1

    Gene Product Disorder SETBP1 SET binding protein 1 Schinzel-Giedion syndrome (mental retardation and neurodegeneration).[] In support of this notion, recent family-based exome sequencing studies have implicated de novo mutations in a number of rare syndromes.[] This fact, combined with the observation that they occur with some appreciable frequency, makes de novo mutation an an intriguing explanation for sporadic diseases.[]

  • Weaver Syndrome

    Etiology: Intragenic mutations in the NSD1 gene (nuclear receptor binding SET domain protein 1), that have been associated with Sotos syndrome, have been found in patients[] […] with Weaver syndrome.The majority of known NSD1 functional domains are in exons 11-23 and all mutations identified were clustered in these domains.[]

  • Marshall-Smith Syndrome

    In 90% of Sotos syndrome cases, mutations occur in the gene encoding nuclear receptor-binding SET domain containing protein 1 ( NSD1 ), 1 , 2 , 3 located on chromosome 5q35[]

Further symptoms