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Mental Retardation, X-linked 102

MedGen UID:
897961
•Concept ID:
C4085582
•
Disease or Syndrome

Definition

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMental Retardation, X-linked 102

Professional guidelines

PubMed

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
Muenzer J, Beck M, Giugliani R, Suzuki Y, Tylki-Szymanska A, Valayannopoulos V, Vellodi A, Wraith JE
Genet Med 2011 Feb;13(2):102-9. doi: 10.1097/GIM.0b013e318206786f. PMID: 21233716

Recent clinical studies

Etiology

Genetic etiology of progressive pediatric neurological disorders.
Aaltio J, Etula A, Ojanen S, Brilhante V, Lönnqvist T, Isohanni P, Suomalainen A
Pediatr Res 2024 Jan;95(1):102-111. Epub 2023 Aug 10 doi: 10.1038/s41390-023-02767-z. PMID: 37563452Free PMC Article
The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.
Sadhu C, Lyons C, Oh J, Jagadeeswaran I, Gray SJ, Sinnett SE
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010031. PMID: 38254921Free PMC Article
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
The neurobiology of X-linked intellectual disability.
Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M
Neuroscientist 2013 Oct;19(5):541-52. Epub 2013 Jul 2 doi: 10.1177/1073858413493972. PMID: 23820068
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE
Am J Hum Genet 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. PMID: 22482801Free PMC Article

Diagnosis

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G
Orphanet J Rare Dis 2023 May 2;18(1):102. doi: 10.1186/s13023-023-02673-x. PMID: 37189159Free PMC Article
The efficacy of immunohistochemistry in the diagnosis of molecular genetic alterations in central nervous system gliomas: Next-generation sequencing of 212 mutations in 112 patients.
Daoud EV, Chkheidze R, Yell PC, Hatanpaa KJ, Raisanen JM, Cai C
Clin Neuropathol 2022 Jan-Feb;41(1):35-40. doi: 10.5414/NP301381. PMID: 34672256
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE
Am J Hum Genet 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. PMID: 22482801Free PMC Article

Therapy

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V
Neurology 2024 Apr 23;102(8):e209243. Epub 2024 Mar 26 doi: 10.1212/WNL.0000000000209243. PMID: 38531017
The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.
Sadhu C, Lyons C, Oh J, Jagadeeswaran I, Gray SJ, Sinnett SE
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010031. PMID: 38254921Free PMC Article
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil.
Giugliani R, Martins AM, So S, Yamamoto T, Yamaoka M, Ikeda T, Tanizawa K, Sonoda H, Schmidt M, Sato Y
Mol Ther 2021 Jul 7;29(7):2378-2386. Epub 2021 Mar 27 doi: 10.1016/j.ymthe.2021.03.019. PMID: 33781915Free PMC Article
Development of the multi-attribute Adolescent Health Utility Measure (AHUM).
Beusterien KM, Yeung JE, Pang F, Brazier J
Health Qual Life Outcomes 2012 Aug 28;10:102. doi: 10.1186/1477-7525-10-102. PMID: 22929184Free PMC Article
X chromosome-inactivation patterns in patients with Rett syndrome.
Krepischi AC, Kok F, Otto PG
Hum Genet 1998 Mar;102(3):319-21. doi: 10.1007/s004390050698. PMID: 9544845

Prognosis

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G
Orphanet J Rare Dis 2023 May 2;18(1):102. doi: 10.1186/s13023-023-02673-x. PMID: 37189159Free PMC Article
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C
Clin Genet 2022 Sep;102(3):182-190. Epub 2022 Jun 14 doi: 10.1111/cge.14173. PMID: 35662002Free PMC Article
The efficacy of immunohistochemistry in the diagnosis of molecular genetic alterations in central nervous system gliomas: Next-generation sequencing of 212 mutations in 112 patients.
Daoud EV, Chkheidze R, Yell PC, Hatanpaa KJ, Raisanen JM, Cai C
Clin Neuropathol 2022 Jan-Feb;41(1):35-40. doi: 10.5414/NP301381. PMID: 34672256
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A
JAMA Neurol 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. PMID: 28288261Free PMC Article
Prevalence and characterization of cardiac involvement in Hunter syndrome.
Kampmann C, Beck M, Morin I, Loehr JP
J Pediatr 2011 Aug;159(2):327-31.e2. Epub 2011 May 6 doi: 10.1016/j.jpeds.2011.01.054. PMID: 21529823

Clinical prediction guides

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients.
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G
Orphanet J Rare Dis 2023 May 2;18(1):102. doi: 10.1186/s13023-023-02673-x. PMID: 37189159Free PMC Article
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C
Clin Genet 2022 Sep;102(3):182-190. Epub 2022 Jun 14 doi: 10.1111/cge.14173. PMID: 35662002Free PMC Article
Multidimensional Development and Adaptive Behavioral Functioning in Younger and Older Children With Rett Syndrome.
Wang SY, Lee WT, Shieh JY, Huang YH, Wong LC, Tsao CH, Chiu YL, Wu YT
Phys Ther 2022 Apr 1;102(4) doi: 10.1093/ptj/pzab297. PMID: 35023562
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.
Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, Jedele KB, Gasteiger M, Lenski C, Murken J, Golla A
Am J Med Genet 1999 Sep 10;86(2):102-6. doi: 10.1002/(sici)1096-8628(19990910)86:2<102::aid-ajmg2>3.0.co;2-c. PMID: 10449641

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