2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis

Additional diagnoses through next-generation sequencing in cases initially considered solved by cytogenetics analysis

Pdf Summary

A case report discusses a patient with a complex phenotype and multiple genetic tests. Initially, the patient's phenotype resembled cases with ring chromosome 13, but further testing revealed additional genetic variants. A homozygous variant in the GJB2 gene was found, which is commonly associated with nonsyndromic, autosomal-recessive deafness. This variant may explain the patient's abnormal sweat chloride test. Additionally, a heterozygous variant in the WNT10A gene was found, which is commonly associated with ectodermal dysplasia. The role of this variant in the patient's phenotype is still unclear. The case report emphasizes the importance of considering additional diagnoses and being aware of the limitations of different laboratory techniques. Despite the initial genetic finding of ring chromosome 13, further testing revealed additional genetic variants that may contribute to the patient's phenotype. This case highlights the need for comprehensive genetic testing when not all symptoms are explained.

Asset Subtitle

Presenting Author - Matheus Wilke, MD. Ph.D.; Co-Author - Mayowa A. Osundiji, MD. PhD.; Co-Author - Dusica Babovic-Vuksanovic, MD; Co-Author - Eric Klee;

Meta Tag

array CGH

Chromosomal Abnormalities

Chromosome Structure/Function

Cognitive Disorders

Counseling

Exome sequencing

Molecular Cytogenetics

NextGen Sequencing

Co-Author Mayowa A. Osundiji, MD. PhD.

Co-Author Dusica Babovic-Vuksanovic, MD

Co-Author Eric Klee

Presenting Author Matheus Wilke, MD. Ph.D.

Keywords

case report

complex phenotype

genetic tests

ring chromosome 13

genetic variants

GJB2 gene

abnormal sweat chloride test

WNT10A gene

ectodermal dysplasia

comprehensive genetic testing