2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Triple diagnoses with overlapping phenotypes: recommendations and reflections

Pdf Summary

This document discusses the case of a patient with triple diagnoses of FAR1, SETD1A, and ATXN2 genetic variants, which result in overlapping phenotypes. FAR1 is associated with spastic paraparesis, speech delay, cognitive impairment, and cataracts. SETD1A is linked to behavioral manifestations, developmental delay, and autism-like features. ATXN2 leads to progressive cerebellar ataxia, dysarthria, and seizures. The patient presented with non-intractable epilepsy, mild hypotonia, developmental delay, bilateral cataracts, and a positive family history of spinocerebellar ataxia type 2. The genetic testing revealed de novo pathogenic variants in FAR1 and SETD1A. The study highlights the importance of considering multiple diagnoses in individuals with complex medical conditions as genetic testing becomes more advanced. It suggests that genetics providers should be aware of the implications of multiple diagnoses for patient management, family education, psychosocial impact, and participation in clinical trials or genetic therapies.

Asset Subtitle

Presenting Author - Kate Richardson, MS, CGC; Co-Author - Hope Northrup, MD, FFACMG; Co-Author - S. Nicholas Russo, MD; Co-Author - John Giang, MD; Co-Author - Jenny Do, MS, CGC;

Meta Tag

Brain/Nervous System

Cognitive Disorders

Counseling

Exome sequencing

Genetic Testing

Intellectual disability

NextGen Sequencing

Phenotype

Phenotypic delineation of disorders

Triplet and Other Repeats

Co-Author Hope Northrup, MD, FFACMG

Co-Author S. Nicholas Russo, MD

Co-Author John Giang, MD

Co-Author Jenny Do, MS, CGC

Presenting Author Kate Richardson, MS, CGC

Keywords

triple diagnoses

FAR1

SETD1A

ATXN2

overlapping phenotypes

developmental delay

cataracts

genetic testing

de novo pathogenic variants

complex medical conditions