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Mental Retardation, X-Linked 34(MRX34)

MedGen UID:
208680
•Concept ID:
C0796241
•
Disease or Syndrome
Synonyms: MENTAL RETARDATION, X-LINKED 34; MRX34
 
OMIM®: 300143

Definition

Nonsyndromic mental retardation. [from MCA/MR]

Professional guidelines

PubMed

Fragile X-associated tremor/ataxia syndrome: pathophysiology and management.
Hagerman R, Hagerman P
Curr Opin Neurol 2021 Aug 1;34(4):541-546. doi: 10.1097/WCO.0000000000000954. PMID: 33990099Free PMC Article
Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.
Hoyos LR, Thakur M
J Assist Reprod Genet 2017 Mar;34(3):315-323. Epub 2016 Dec 19 doi: 10.1007/s10815-016-0854-6. PMID: 27995424Free PMC Article
Assessment and management of nutrition and growth in Rett syndrome.
Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, Abraham S, Geerts S, Lane J, Jones M, Bathgate K, Downs J; Telethon Institute for Child Health Research
J Pediatr Gastroenterol Nutr 2013 Oct;57(4):451-60. doi: 10.1097/MPG.0b013e31829e0b65. PMID: 24084372Free PMC Article

Recent clinical studies

Etiology

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group
Lancet Neurol 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. PMID: 36681445
Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers.
Aishworiya R, Protic D, Tang SJ, Schneider A, Tassone F, Hagerman R
Genes (Basel) 2022 Dec 17;13(12) doi: 10.3390/genes13122399. PMID: 36553666Free PMC Article
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Genetic cerebellar ataxias.
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
Wada T, Ban H, Matsufuji M, Okamoto N, Enomoto K, Kurosawa K, Aida N
AJNR Am J Neuroradiol 2013 Oct;34(10):2034-8. Epub 2013 May 16 doi: 10.3174/ajnr.A3560. PMID: 23681356Free PMC Article

Diagnosis

Fragile X-associated tremor/ataxia syndrome: pathophysiology and management.
Hagerman R, Hagerman P
Curr Opin Neurol 2021 Aug 1;34(4):541-546. doi: 10.1097/WCO.0000000000000954. PMID: 33990099Free PMC Article
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
The eye and the skin in nonendocrine metabolic disorders.
Urrets-Zavalía JA, Espósito E, Garay I, Monti R, Ruiz-Lascano A, Correa L, Serra HM, Grzybowski A
Clin Dermatol 2016 Mar-Apr;34(2):166-82. Epub 2015 Dec 7 doi: 10.1016/j.clindermatol.2015.12.002. PMID: 26903184
Genetic cerebellar ataxias.
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

Therapy

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group
Lancet Neurol 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. PMID: 36681445
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618
The X-linked adrenoleukodystrophy (X-ALD) and oxidative stress.
Al-Omar MA
J Herb Pharmacother 2006;6(3-4):125-34. doi: 10.1080/j157v06n03_07. PMID: 17317654
MZ female twins discordant for X-linked diseases: a review.
Tiberio G
Acta Genet Med Gemellol (Roma) 1994;43(3-4):207-14. doi: 10.1017/s0001566000001963. PMID: 8588495

Prognosis

Diagnostic algorithm for pathological evaluation of gliomas in a resource-constrained setting.
Jain S, Gupta P, Shankar KB, Singh R, Siraj F
J Cancer Res Ther 2023 Apr-Jun;19(3):562-566. doi: 10.4103/jcrt.jcrt_102_21. PMID: 37470575
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group
Lancet Neurol 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. PMID: 36681445
Immunohistochemical expression of ATRX in gliomas.
Jalal JA, Rowandizy AIS, Ismael AT
Cell Mol Biol (Noisy-le-grand) 2020 Aug 31;66(7):131-135. PMID: 33287933
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N
CNS Neurosci Ther 2018 Dec;24(12):1196-1206. Epub 2018 Apr 17 doi: 10.1111/cns.12860. PMID: 29667327Free PMC Article

Clinical prediction guides

The clinical and sleep manifestations in children with FOXG1 syndrome.
Wong LC, Huang CH, Chou WY, Hsu CJ, Tsai WC, Lee WT
Autism Res 2023 May;16(5):953-966. Epub 2023 Mar 21 doi: 10.1002/aur.2916. PMID: 36942618
EEG as a translational biomarker and outcome measure in fragile X syndrome.
Kenny A, Wright D, Stanfield AC
Transl Psychiatry 2022 Jan 24;12(1):34. doi: 10.1038/s41398-022-01796-2. PMID: 35075104Free PMC Article
Immunohistochemical expression of ATRX in gliomas.
Jalal JA, Rowandizy AIS, Ismael AT
Cell Mol Biol (Noisy-le-grand) 2020 Aug 31;66(7):131-135. PMID: 33287933
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618
XLMR genes: update 1996.
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G
Am J Med Genet 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. PMID: 8826465

Recent systematic reviews

Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials.
Abbas A, Fayoud AM, El Din Moawad MH, Hamad AA, Hamouda H, Fouad EA
BMC Pediatr 2024 Mar 23;24(1):206. doi: 10.1186/s12887-024-04526-3. PMID: 38521908Free PMC Article
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F
Eur J Paediatr Neurol 2021 Sep;34:7-13. Epub 2021 Jun 21 doi: 10.1016/j.ejpn.2021.05.013. PMID: 34271245
Uncovering the evidence for behavioral interventions with individuals with fragile X syndrome: a systematic review.
Moskowitz LJ, Jones EA
Res Dev Disabil 2015 Mar;38:223-41. Epub 2015 Jan 6 doi: 10.1016/j.ridd.2014.12.011. PMID: 25575286
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
Mol Genet Metab 2014 Aug;112(4):259-74. Epub 2014 May 29 doi: 10.1016/j.ymgme.2014.05.011. PMID: 24953403
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

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