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2023 ACMG Annual Clinical Genetics Meeting Digital ...
KDM5C-related X-Linked Intellectual Disability: A ...
KDM5C-related X-Linked Intellectual Disability: A Review of Natural History and Expansion of the Phenotype
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This document summarizes a study on KDM5C-related X-linked intellectual disability. The study collected data from individuals with a molecularly confirmed KDM5C variant through a survey. The survey covered demographics, genotype, neurodevelopmental and behavioral phenotypes, medical concerns, and previous interventions/therapies. The study identified several phenotypic traits in the sample, including high rates of ADHD, PDD, inattention, and neurobehavioral concerns such as skin picking, self-injury, teeth grinding, and difficulty toilet training. The individuals typically presented with developmental delays, especially in motor and language domains, with language delays being the most severe. The study recommended early referral to therapies, neuropsychological testing, developmental and behavioral pediatrics referral, ophthalmologic evaluation, and cardiology evaluation if there are clinical concerns. The genotype-phenotype correlation was found to be unclear, with no clustering of variants. The study identified 20 novel variants in the KDM5C gene and found that 12 participants had a maternally inherited variant, 20 had a de novo variant, and 6 had an unknown or unreported inheritance. The study suggests that KDM5C-related X-linked intellectual disability is associated with variable intellectual disability as well as short stature, microcephaly, hyperreflexia, and aggressive behavior in males. Some carrier females may also experience mild symptoms. The study highlights the importance of further research to better understand the natural history and phenotypic features of this disorder.
Asset Subtitle
Presenting Author - Zachary Whitt, MD; Co-Author - Christina Vallianatos, PhD; Co-Author - Shigeki Iwase, PhD; Co-Author - Kristen N. Lee, MD; Co-Author - Catherine Keegan, MD, PhD;
Meta Tag
Brain/Nervous System
Clinical History
Cognitive Disorders
Databases
Intellectual disability
Natural History
Phenotype
X-Inactivation/X-Linked Disease
Co-Author
Christina Vallianatos, PhD
Co-Author
Shigeki Iwase, PhD
Co-Author
Kristen N. Lee, MD
Co-Author
Catherine Keegan, MD, PhD
Presenting Author
Zachary Whitt, MD
Keywords
KDM5C-related X-linked intellectual disability
genotype
neurodevelopmental phenotypes
behavioral phenotypes
developmental delays
language delays
early referral
genotype-phenotype correlation
intellectual disability
phenotypic features
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