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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

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458
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
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
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S, Ohno K, Okuyama T, Sakuraba H
PLoS One 2016;11(10):e0163964. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163964. PMID: 27695081Free 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

Diagnosis

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
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S, Ohno K, Okuyama T, Sakuraba H
PLoS One 2016;11(10):e0163964. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163964. PMID: 27695081Free PMC Article
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, Hobson L, Turner G, Boyle J, Field M, Hackett A, Corbett M, Gecz J
Eur J Hum Genet 2016 Nov;24(11):1612-1616. Epub 2016 May 25 doi: 10.1038/ejhg.2016.46. PMID: 27222290Free PMC Article
A 12-year-old boy with chest pain and dyspnoea.
Latorre Navarro L, García-Guereta Silva L, Ruíz Bravo-Burguillos E
Heart 2016 Sep 15;102(18):1485. Epub 2016 May 4 doi: 10.1136/heartjnl-2016-309394. PMID: 27146693
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

Therapy

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458
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
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.
Ahn SY, Chang YS, Sung DK, Ko AR, Kim CH, Yoo DK, Lim KH, Sohn YB, Jin DK, Park WS
J Hum Genet 2013 Nov;58(11):728-33. Epub 2013 Sep 5 doi: 10.1038/jhg.2013.92. PMID: 24005894
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.
Ogawa E, Kodama H
J Trace Elem Med Biol 2012 Jun;26(2-3):102-4. Epub 2012 May 8 doi: 10.1016/j.jtemb.2012.04.017. PMID: 22575542

Prognosis

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations.
Lebeda D, Fierenz A, Werfel L, Rosin-Arbesfeld R, Hofhuis J, Thoms S
J Mol Med (Berl) 2024 May;102(5):641-653. Epub 2024 Mar 2 doi: 10.1007/s00109-024-02436-6. PMID: 38430393Free PMC Article
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, Hobson L, Turner G, Boyle J, Field M, Hackett A, Corbett M, Gecz J
Eur J Hum Genet 2016 Nov;24(11):1612-1616. Epub 2016 May 25 doi: 10.1038/ejhg.2016.46. PMID: 27222290Free PMC Article
Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival.
Sarajlija A, Kisic-Tepavcevic D, Nikolic Z, Savic Pavicevic D, Obradovic S, Djuric M, Pekmezovic T
Neuroepidemiology 2015;44(1):1-5. Epub 2015 Jan 7 doi: 10.1159/000369494. PMID: 25571926
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

Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations.
Lebeda D, Fierenz A, Werfel L, Rosin-Arbesfeld R, Hofhuis J, Thoms S
J Mol Med (Berl) 2024 May;102(5):641-653. Epub 2024 Mar 2 doi: 10.1007/s00109-024-02436-6. PMID: 38430393Free PMC Article
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Kumar R, Ha T, Pham D, Shaw M, Mangelsdorf M, Friend KL, Hobson L, Turner G, Boyle J, Field M, Hackett A, Corbett M, Gecz J
Eur J Hum Genet 2016 Nov;24(11):1612-1616. Epub 2016 May 25 doi: 10.1038/ejhg.2016.46. PMID: 27222290Free PMC Article
Treating Fragile X syndrome with the diuretic bumetanide: a case report.
Lemonnier E, Robin G, Degrez C, Tyzio R, Grandgeorge M, Ben-Ari Y
Acta Paediatr 2013 Jun;102(6):e288-90. doi: 10.1111/apa.12235. PMID: 23647528
Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.
Ogawa E, Kodama H
J Trace Elem Med Biol 2012 Jun;26(2-3):102-4. Epub 2012 May 8 doi: 10.1016/j.jtemb.2012.04.017. PMID: 22575542
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

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