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

Cognitive function in Coffin-Lowry syndrome.

R J Simensen1, F Abidi, J S Collins

  • 1J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, SC 29646, USA. simensen@ggc.org

Clinical Genetics
|May 29, 2002
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

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Clinical epigenetics·2021
Same author

Corrigendum to "Incidence and detection of Beak and Feather disease virus in psittacine birds in the UAE" [Biomol. Detect. Quantif. 6 (January) (2016) 27-32].

Biomolecular detection and quantification·2019
Same author

Weather Variables Associated with Infection of Tomato Fruit by Colletotrichum coccodes.

Plant disease·2019
Same author

Appressorium Formation and Tomato Fruit Infection by Colletotrichum coccodes.

Plant disease·2019
Same author

Incidence and detection of beak and feather disease virus in psittacine birds in the UAE.

Biomolecular detection and quantification·2016
Same author

Behavioral inhibition in childhood predicts smaller hippocampal volume in adolescent offspring of parents with panic disorder.

Translational psychiatry·2015

Coffin-Lowry syndrome (CLS), caused by RSK2 gene mutations, significantly impacts cognitive function. Affected males and carrier females exhibit intellectual deficits, with carriers showing milder effects than affected individuals.

Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by intellectual disability, distinct facial and hand features, hypotonia, and skeletal abnormalities.
  • Mutations in the RSK2 gene (Ribosomal S6 Kinase 2) on chromosome Xp22.2 are the known cause of CLS.
  • While clinical features are documented, the cognitive impact on affected males and carrier females remains under-researched.

Purpose of the Study:

  • To investigate the cognitive deficits in individuals with Coffin-Lowry syndrome, specifically focusing on affected males and carrier females.
  • To analyze the cognitive performance hierarchy across normal, carrier, and affected individuals within families.
  • To explore the relationship between X-inactivation patterns and cognitive function in carrier females.

Related Experiment Videos

Main Methods:

  • Study involved two African-American families with a shared RSK2 missense mutation (C340T).
  • Participants included affected males (6), carrier females (7), normal males (3), and normal females (3).
  • Cognitive function was assessed using the Stanford-Binet Intelligence Scale, 4th edition; X-inactivation studies were also conducted.

Main Results:

  • A clear hierarchy of cognitive abilities was observed: normal > carrier > affected.
  • Mean composite IQ scores were 90.8 for normal individuals, 65.0 for carriers, and 43.2 for affected individuals.
  • Carrier females displayed mild to significant X-inactivation skewing, which did not significantly correlate with their IQ scores.

Conclusions:

  • The study confirms significant intellectual deficits associated with Coffin-Lowry syndrome in both affected males and carrier females.
  • Findings support the concept of negative intellectual consequences in carriers of X-linked mental retardation disorders.
  • X-inactivation patterns in carriers contribute to the variability in cognitive function but do not fully explain the observed deficits.