2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-A Truncating Variant in <em>RFX7</em> Causing Developmental Delay and Intellectual Disability.

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

Malformation

Intellectual disability

Exome sequencing

Dysmorphology

Congenital Anomaly

Cognitive Disorders

Co-Author Andrew K. Sobering, PhD

Co-Author Beverly Nelson, MD

Co-Author Elizabeth J. Bhoj, MD, PhD

Co-Author Dong Li, PhD

Co-Author Talia Sisroe, BS

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