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2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Truncating Variant in
RFX7
Causing Deve ...
A Truncating Variant in
RFX7
Causing Developmental Delay and Intellectual Disability.
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Pdf Summary
The document presents a case study of a 14-year-old girl with developmental delay and intellectual disability caused by a de novo variant in the RFX7 gene. The RFX7 gene encodes transcription factors involved in neuronal development and has been linked to intellectual disability and autism spectrum disorder. The study expands the knowledge of the allelic heterogeneity associated with RFX7 variants and the range of phenotypic variability associated with loss of function variants in this gene.<br /><br />The girl in the case study exhibited delayed milestones, such as speaking her first words at 7 years old and taking her first steps at 2.5 years old. She also had microcephaly, congenital vertical talus, and a congenital atrial septal defect.<br /><br />The study references previous research that described 11 individuals with truncating variants in the RFX7 gene. The clinical features among these individuals did not display a recognizable pattern, indicating phenotypic heterogeneity associated with RFX7 variants.<br /><br />Overall, this case study contributes to our understanding of the genetic basis of developmental delay and intellectual disability and highlights the importance of further research on RFX7 variants and their associated phenotypes.
Asset Subtitle
Presenting Author - Attila Dos Santos, BS; Co-Author - Talia Sisroe, BS; Co-Author - Dong Li, PhD; Co-Author - Elizabeth J. Bhoj, MD, PhD; Co-Author - Beverly Nelson, MD; Co-Author - Andrew K. Sobering, PhD;
Meta Tag
Cognitive Disorders
Congenital Anomaly
Dysmorphology
Exome sequencing
Intellectual disability
Malformation
Co-Author
Talia Sisroe, BS
Co-Author
Dong Li, PhD
Co-Author
Elizabeth J. Bhoj, MD, PhD
Co-Author
Beverly Nelson, MD
Co-Author
Andrew K. Sobering, PhD
Presenting Author
Attila Dos Santos, BS
Keywords
developmental delay
intellectual disability
RFX7 gene
de novo variant
transcription factors
neuronal development
autism spectrum disorder
allelic heterogeneity
phenotypic variability
truncating variants
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