Publications by authors named "W E Mears"
Article Synopsis
- Activating mutations in the PIK3CA gene lead to a variety of disorders known as PIK3CA-related overgrowth spectrum (PROS), which includes syndromes like CLOVES and MCAP.
- The study focused on detecting mosaic variants in PIK3CA, which are challenging to identify but critical for diagnosing PROS.
- By using deep sequencing technologies, specifically the Illumina TruSight Oncology 500 panel, researchers successfully identified pathogenic mosaic variants in all patients tested, emphasizing the need for enhanced genetic screening in this area.
Background And Objectives: To expand the clinical knowledge of 1-related glycosylphosphatidylinositol (GPI) deficiency.
Methods: An international case series of 7 patients with biallelic variants were identified. Clinical, biochemical, and neuroimaging data were collected for comparison.
ABHD16A (abhydrolase domain-containing protein 16A, phospholipase) encodes the major phosphatidylserine (PS) lipase in the brain. PS lipase synthesizes lysophosphatidylserine, an important signaling lipid that functions in the mammalian central nervous system. ABHD16A has not yet been associated with a human disease.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. With few exceptions, PCD is an autosomal recessive condition, and there are over 40 genes associated with the condition. We present a case of a newborn female with clinical features of PCD, specifically the Kartagener syndrome phenotype, due to variants in TTC25.
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