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Mental Retardation, X-Linked 78(MRX78)

MedGen UID:
336873
•Concept ID:
C1845181
•
Mental or Behavioral Dysfunction
Synonyms: MENTAL RETARDATION, X-LINKED 78; MRX78
 
OMIM®: 309530

Professional guidelines

PubMed

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
Leibowitz R, Lewis S, Emery J, Massie J, Smith M, Delatycki M, Archibald A
Aust J Prim Health 2022 Dec;28(6):580-587. doi: 10.1071/PY21247. PMID: 36192111
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S
Neurology 2011 Oct 25;77(17):1629-35. Epub 2011 Sep 28 doi: 10.1212/WNL.0b013e3182345896. PMID: 21956720
Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.
Sowell J, Norris J, Jones K, Schwartz C, Wood T
Clin Chim Acta 2011 Mar 18;412(7-8):655-60. Epub 2011 Jan 8 doi: 10.1016/j.cca.2010.12.037. PMID: 21219895

Recent clinical studies

Therapy

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Vollebregt AAM, Ebbink BJ, Rizopoulos D, Lequin MH, Aarsen FK, Shapiro EG, van der Ploeg AT, van den Hout JMP
J Inherit Metab Dis 2021 May;44(3):751-762. Epub 2021 Jan 25 doi: 10.1002/jimd.12342. PMID: 33330992Free PMC Article
Caries experience and salivary aspects in individuals with fragile X syndrome.
Amaral COFD, Straioto FG, Napimoga MH, Martinez EF
Braz Oral Res 2017 Sep 28;31:e79. doi: 10.1590/1807-3107BOR-2017.vol31.0079. PMID: 29019551
X inactivation and reactivation in X-linked diseases.
Vacca M, Della Ragione F, Scalabrì F, D'Esposito M
Semin Cell Dev Biol 2016 Aug;56:78-87. Epub 2016 Mar 17 doi: 10.1016/j.semcdb.2016.03.009. PMID: 26994527
Unstable mutations in the FMR1 gene and the phenotypes.
Loesch D, Hagerman R
Adv Exp Med Biol 2012;769:78-114. doi: 10.1007/978-1-4614-5434-2_6. PMID: 23560306Free PMC Article
Mechanism-based approaches to treating fragile X.
Dölen G, Carpenter RL, Ocain TD, Bear MF
Pharmacol Ther 2010 Jul;127(1):78-93. Epub 2010 Mar 18 doi: 10.1016/j.pharmthera.2010.02.008. PMID: 20303363

Prognosis

Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Vollebregt AAM, Ebbink BJ, Rizopoulos D, Lequin MH, Aarsen FK, Shapiro EG, van der Ploeg AT, van den Hout JMP
J Inherit Metab Dis 2021 May;44(3):751-762. Epub 2021 Jan 25 doi: 10.1002/jimd.12342. PMID: 33330992Free PMC Article
Pituitary Adenoma in Pediatric and Adolescent Populations.
Chen J, Schmidt RE, Dahiya S
J Neuropathol Exp Neurol 2019 Jul 1;78(7):626-632. doi: 10.1093/jnen/nlz040. PMID: 31115468Free PMC Article
Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry.
López-Sainz Á, Salazar-Mendiguchía J, García-Álvarez A, Campuzano Larrea O, López-Garrido MÁ, García-Guereta L, Fuentes Cañamero ME, Climent Payá V, Peña-Peña ML, Zorio-Grima E, Jordá-Burgos P, Díez-López C, Brugada R, García-Pinilla JM, García-Pavía P
Rev Esp Cardiol (Engl Ed) 2019 Jun;72(6):479-486. Epub 2018 Aug 11 doi: 10.1016/j.rec.2018.04.035. PMID: 30108015
A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism.
Raspa M, Franco V, Bishop E, Wheeler AC, Wylie A, Bailey DB Jr
Res Dev Disabil 2018 Jul;78:1-14. Epub 2018 May 3 doi: 10.1016/j.ridd.2018.04.024. PMID: 29730505
Neonatal adrenoleukodystrophy.
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA
Orphanet J Rare Dis 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3. PMID: 37974184Free PMC Article
Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Vollebregt AAM, Ebbink BJ, Rizopoulos D, Lequin MH, Aarsen FK, Shapiro EG, van der Ploeg AT, van den Hout JMP
J Inherit Metab Dis 2021 May;44(3):751-762. Epub 2021 Jan 25 doi: 10.1002/jimd.12342. PMID: 33330992Free PMC Article
Pituitary Adenoma in Pediatric and Adolescent Populations.
Chen J, Schmidt RE, Dahiya S
J Neuropathol Exp Neurol 2019 Jul 1;78(7):626-632. doi: 10.1093/jnen/nlz040. PMID: 31115468Free PMC Article
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system.
Sakurai K, Ohashi T, Shimozawa N, Joo-Hyun S, Okuyama T, Ida H
Brain Dev 2019 Jan;41(1):50-56. Epub 2018 Aug 1 doi: 10.1016/j.braindev.2018.07.007. PMID: 30077509
Niikawa-Kuroki syndrome.
Roccella M
Minerva Pediatr 1999 Jul-Aug;51(7-8):271-8. PMID: 10634060

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