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Deleterious ATRX Gene Mutation

MedGen UID:
1777602
•Concept ID:
C5400848
•
Cell or Molecular Dysfunction
Synonyms: Deleterious Alpha Thalassemia/Mental Retardation Syndrome X-Linked Gene Mutation; Deleterious ATRX Mutation; Deleterious ATRX, Chromatin Remodeler Gene Mutation; Deleterious RAD54 Gene Mutation; Deleterious RAD54 Homolog Gene Mutation; Deleterious RAD54L Gene Mutation; Deleterious XH2 Gene Mutation; Deleterious XNP Gene Mutation; Deleterious ZNF-HX Gene Mutation

Definition

A change in the nucleotide sequence of the ATRX gene that is associated with increased risk of disease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeleterious ATRX Gene Mutation

Recent clinical studies

Etiology

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.
Kuick CH, Tan JY, Jasmine D, Sumanty T, Ng AYJ, Venkatesh B, Chen H, Loh E, Jain S, Seow WY, Ng EHQ, Lian DWQ, Soh SY, Chang KTE, Chen ZX, Loh AHP
BMC Cancer 2022 Jun 30;22(1):717. doi: 10.1186/s12885-022-09800-0. PMID: 35768791Free PMC Article
Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.
Neychev V, Sadowski SM, Zhu J, Allgaeuer M, Kilian K, Meltzer P, Kebebew E
J Clin Endocrinol Metab 2016 Feb;101(2):353-8. Epub 2015 Dec 17 doi: 10.1210/jc.2015-3684. PMID: 26678657Free PMC Article

Diagnosis

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.
Johnson A, Severson E, Gay L, Vergilio JA, Elvin J, Suh J, Daniel S, Covert M, Frampton GM, Hsu S, Lesser GJ, Stogner-Underwood K, Mott RT, Rush SZ, Stanke JJ, Dahiya S, Sun J, Reddy P, Chalmers ZR, Erlich R, Chudnovsky Y, Fabrizio D, Schrock AB, Ali S, Miller V, Stephens PJ, Ross J, Crawford JR, Ramkissoon SH
Oncologist 2017 Dec;22(12):1478-1490. Epub 2017 Sep 14 doi: 10.1634/theoncologist.2017-0242. PMID: 28912153Free PMC Article
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A
Indian J Med Res 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589. PMID: 26997013Free PMC Article
Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.
Neychev V, Sadowski SM, Zhu J, Allgaeuer M, Kilian K, Meltzer P, Kebebew E
J Clin Endocrinol Metab 2016 Feb;101(2):353-8. Epub 2015 Dec 17 doi: 10.1210/jc.2015-3684. PMID: 26678657Free PMC Article

Prognosis

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.
Kuick CH, Tan JY, Jasmine D, Sumanty T, Ng AYJ, Venkatesh B, Chen H, Loh E, Jain S, Seow WY, Ng EHQ, Lian DWQ, Soh SY, Chang KTE, Chen ZX, Loh AHP
BMC Cancer 2022 Jun 30;22(1):717. doi: 10.1186/s12885-022-09800-0. PMID: 35768791Free PMC Article
Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.
Johnson A, Severson E, Gay L, Vergilio JA, Elvin J, Suh J, Daniel S, Covert M, Frampton GM, Hsu S, Lesser GJ, Stogner-Underwood K, Mott RT, Rush SZ, Stanke JJ, Dahiya S, Sun J, Reddy P, Chalmers ZR, Erlich R, Chudnovsky Y, Fabrizio D, Schrock AB, Ali S, Miller V, Stephens PJ, Ross J, Crawford JR, Ramkissoon SH
Oncologist 2017 Dec;22(12):1478-1490. Epub 2017 Sep 14 doi: 10.1634/theoncologist.2017-0242. PMID: 28912153Free PMC Article
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A
Indian J Med Res 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589. PMID: 26997013Free PMC Article

Clinical prediction guides

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S, Gupta R, Oberheim Bush NA, Taylor JW, Villanueva-Meyer JE, Young JS, Wu J, Ravindranathan A, Zhang Y, Warrier G, McCoy L, Shai A, Pekmezci M, Perry A, Bollen AW, Phillips JJ, Braunstein SE, Raleigh DR, Theodosopoulos P, Aghi MK, Chang EF, Hervey-Jumper SL, Costello JF, de Groot J, Butowski NA, Clarke JL, Chang SM, Berger MS, Molinaro AM, Solomon DA
Acta Neuropathol 2023 Dec 11;147(1):3. doi: 10.1007/s00401-023-02654-1. PMID: 38079020Free PMC Article
Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.
Kuick CH, Tan JY, Jasmine D, Sumanty T, Ng AYJ, Venkatesh B, Chen H, Loh E, Jain S, Seow WY, Ng EHQ, Lian DWQ, Soh SY, Chang KTE, Chen ZX, Loh AHP
BMC Cancer 2022 Jun 30;22(1):717. doi: 10.1186/s12885-022-09800-0. PMID: 35768791Free PMC Article
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A
Indian J Med Res 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589. PMID: 26997013Free PMC Article

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