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

Guidelines for reporting clinical features in cases with MECP2 mutations.

A M Kerr1, Y Nomura, D Armstrong

  • 1Department of Psychological Medicine, Gartnavel Royal Hospital, G12 0XH, Glasgow, UK.

Brain & Development
|May 30, 2001
PubMed
Summary

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

The governance of surgical innovation in the UK National Health Service.

The British journal of surgery·2026
Same author

The effects of simultaneous isometric and eccentric- or concentric-biased exercise on cardiovascular and muscular health of young individuals.

European journal of applied physiology·2026
Same author

The distribution of healthcare workforces relative to population ill health in England: Repeated cross-sectional analysis of Census data 2001-2021.

Public health·2025
Same author

Full-Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open-Label Study.

Journal of paediatrics and child health·2025
Same author

Prevalence of transthyretin cardiac amyloidosis in undifferentiated heart failure with preserved ejection fraction.

ESC heart failure·2024
Same author

The inflexible mind: A critical factor in understanding and addressing COVID-19 vaccine hesitancy.

Journal of psychiatric research·2024

International experts recommend standardized data reporting for MECP2 gene mutations in Rett Syndrome research. This facilitates genotype-phenotype comparisons and guides clinical screening for MECP2 mutations.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Rett Syndrome is a neurodevelopmental disorder often linked to mutations in the Methyl CpG-binding protein 2 (MECP2) gene on the X chromosome.
  • Clinical presentations of MECP2-related disorders are diverse, complicating diagnosis and research comparability.

Framework:

  • A proposed minimum data set for research papers linking MECP2 genotypes to phenotypes.
  • A simplified scoring system to standardize the reporting of clinical features and disturbances.

Implementation:

  • Researchers should adopt the minimum data set when publishing MECP2 genotype-phenotype correlations.
  • Clinicians can utilize the suggested scoring system for consistent clinical profiling.

Implications:

Related Experiment Videos

  • Enhanced comparability of research findings on MECP2 mutations and Rett Syndrome.
  • Improved diagnostic accuracy and identification of individuals requiring MECP2 mutation screening.
  • Facilitation of targeted therapeutic strategies for MECP2-related disorders.