2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Seeing Double - A case series of patients with multiple genetic diagnoses in a small genomics clinic

Pdf Summary

This case series describes three patients seen at a genomics clinic who were found to have multiple genetic diagnoses. The patients had various developmental delays, intellectual disabilities, and congenital anomalies. The first patient had global developmental delay, hypotonia, and mixed hearing loss. Genetic testing revealed a deletion on chromosome 10, a pathogenic variant in the MN1 gene associated with CEBALID syndrome, and a variant of uncertain significance in the CNOT1 gene associated with Vissers-Bodmer syndrome. Additionally, a secondary finding of a pathogenic variant in the APOB gene was detected. The second patient had mild intellectual disability, learning disabilities, short stature, and dysmorphic features. Genome sequencing identified pathogenic variants in the KDM3B and TRPS1 genes, both associated with specific syndromes characterized by short stature and intellectual disability. The third patient had Trisomy 21 and epilepsy with multiple seizure types. Genetic testing revealed a variant in the KCNA2 gene, which was determined to be pathogenic after family studies. This gene is associated with infantile-onset epilepsy and developmental regression. The cases demonstrate the challenges in diagnosing patients with multiple genetic conditions due to the complexity of their phenotypes and the limitations of different genetic tests. It emphasizes the importance of comprehensive genomic testing and clinical correlation by genetics professionals in diagnosing rare genetic diseases.

Asset Subtitle

Presenting Author - Tanner Coleman, MS, CGC; Co-Author - Meagan E. Cochran, MS, CGC; Co-Author - Jada Pugh, ScM, CGC; Co-Author - Melissa A. Kelly, PhD; Co-Author - Anna CE. Hurst, MD;

Meta Tag

array CGH

Brain/Nervous System

Cognitive Disorders

Delineation of Diseases

Dysmorphology

Exome sequencing

Genetic Testing

Genome sequencing

Intellectual disability

Microarray

NextGen Sequencing

Phenotypic delineation of disorders

Sequencing

Co-Author Meagan E. Cochran, MS, CGC

Co-Author Jada Pugh, ScM, CGC

Co-Author Melissa A. Kelly, PhD

Co-Author Anna CE. Hurst, MD

Presenting Author Tanner Coleman, MS, CGC

Keywords

genomics clinic

multiple genetic diagnoses

developmental delays

intellectual disabilities

congenital anomalies

global developmental delay

hypotonia

CEBALID syndrome

Vissers-Bodmer syndrome

APOB gene