Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Non-specific X-linked mental retardation].

F Martínez-Castellano1

  • 1Hospital Universitario La Fe, 46009 Valencia, España. francisco@gva.es

Revista De Neurologia
|March 1, 2006
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].

Revista de neurologia·2020
Same author

[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation].

Revista de neurologia·2009
Same author

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].

Revista de neurologia·2008
Same author

[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].

Revista de neurologia·2007
Same author

[The fragile X syndrome and its relation to other chromosome X-linked syndromes that are associated with mental retardation].

Medicina clinica·1992
Same author

[Importance of cytogenetics in the study of acute non-lymphoblastic leukemias].

Sangre·1991
Same journal

The Correlation Between and Variability of Three Balance Scales in the Assessment of Balance Function in Patients With Ataxia.

Revista de neurologia·2026
Same journal

Surgical Treatment of an Aneurysm in the Subacute Stage of Hemorrhagic Moyamoya Disease: Aneurysm Resection Combined With STA-MCA Bypass: A Case Report.

Revista de neurologia·2026
Same journal

Mapping the Evidence: Central Sleep Apnea Syndromes During Sleep and Stroke-A Scoping Review.

Revista de neurologia·2026
Same journal

Developmental and Epileptic Encephalopathy Due to a Novel <i>ARHGEF9</i> Deletion Variant: Case Series of Two Siblings.

Revista de neurologia·2026
Same journal

P300 Event-Related Potentials as Cognitive Biomarkers in Neurological and Neuropsychiatric Disorders: A Systematic Review.

Revista de neurologia·2026
Same journal

[Effectiveness and Risk of Recurrence of Pulsed Radiofrequency in Trigeminal Neuralgia and Chronic Cluster Headache].

Revista de neurologia·2026
See all related articles

Genetic linkage studies have identified 22 genes linked to X-linked mental retardation (XLMR), but these explain less than half of non-specific cases. Further research is needed to identify more XLMR genes for improved diagnosis and genetic counseling.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurodevelopmental Disorders

Context:

  • X-linked mental retardation (XLMR) is a heterogeneous group of disorders.
  • Non-specific XLMR lacks distinct clinical features, complicating diagnosis.
  • Genetic factors are a significant cause of XLMR.

Purpose:

  • To review identified genes associated with XLMR.
  • To highlight the genetic heterogeneity of non-specific XLMR.
  • To discuss the implications for future research and genetic counseling.

Summary:

  • Genetic linkage studies and chromosomal analysis have identified 22 genes implicated in XLMR.
  • These genes encode proteins involved in gene regulation, neuronal development, synaptic function, and metabolism.

Related Experiment Videos

  • Notable genes include RPS6KA3, ARX, JARID1C, OPHN1, and MeCP2.

    • Impact:

    • Identified genes explain only a fraction of XLMR cases, indicating significant genetic underdiagnosis.
    • The discovery of new XLMR genes is anticipated with advancements in diagnostic technologies.
    • Improved genetic understanding will facilitate diagnosis and genetic counseling for affected families.