Publications by authors named "Carrie A Lahner"
Purpose: Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a conclusive diagnosis. To provide comprehensive genomic testing to patients with undiagnosed disease, we established an Individualized Medicine Clinic, which offered clinical exome testing and included a Translational Omics Program (TOP) that provided variant curation, research activities, or research exome sequencing.
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- The study focuses on new cases of ACO2-related diseases, caused by genetic mutations in the ACO2 gene, linked to severe neurological and developmental issues.
- Researchers assessed five patients with different presentations and severity of symptoms, revealing a range from mild symptoms like ataxia and developmental delays to severe conditions like spastic quadriplegia and life-threatening complications.
- The findings emphasize the need for awareness of milder manifestations of ACO2-related disorders, as they can often be overlooked despite their significant impact on patient health.
Wolf-Hirschhorn syndrome (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental disability, and seizures. This disorder is caused by heterozygous deletions on chromosome 4p16.3 often identified by cytogenetic techniques.
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