Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder that is caused by mutations in the KMT2A gene. This case reports a two-year-old male's diagnosis of WDSTS via a heterozygous variant of uncertain significance (VUS) (c.11735G>A(p.Cys3912Tyr). The patient's phenotypic presentation was remarkable for hypertrichosis, intellectual disability, intermittent aggressive behavior, developmental delay, failure to thrive, low weight, and the distinct facial features of long eyelashes, telecanthus, corrected strabismus, down-slanting palpebral fissures, and a wide nasal bridge with a broad tip. The importance of this case report stands on the principle of genetic evaluation in patients with ambiguous clinical presentations. In the future, molecular analysis of VUS with pathogenic clinical features can lead to targeted medical management and counseling.

Genetic Evaluation of Late-Onset Hypertrophic Cardiomyopathy: An Autobiographical Case Report.

Cardiomyopathy, also known as a pathology with a cardiovascular cause, can be further differentiated into multiple categories including genetic. Strong correlations between genetic mutations in sarcomeric proteins and presentation of cardiomyopathies have been made. This case report describes the clinical diagnosis of my late-onset hypertrophic cardiomyopathy, which was brought upon by symptoms of chest pain and palpitations that started approximately two years ago and had mostly gone unnoticed during this period. As a geneticist, I decided to undergo genetic test upon diagnosis. These tests found a heterozygous variant of uncertain significance (VUS) in the ALPK3 gene, c.399dup (p.Gly134ArgfsTer30), and a heterozygous c.7552G>A (p.Val2518Ile) VUS in the desmoplakin (DSP) gene. This autobiographical case report hopes to shed light on the importance of genetic screening in the search for the etiology of clinical symptoms.