Publications by authors named "Denae Henry"
Unstable variant hemoglobinopathies are an uncommon cause of hemolysis in the pediatric patient and may cause a delay in diagnosis if there is not a high index of suspicion. Hemoglobin (Hb) Mizuho is a rare unstable hemoglobinopathy caused by a pathogenic variant of the gene with a severe phenotype. Here we report on the first known case of Hb Mizuho in Australia, presenting with features of acute and chronic hemolysis.
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- The study investigates the role of the RNF43 gene in causing an inherited risk for colorectal cancer (CRC), revealing that two family members with CRC share a likely-pathogenic variant.
- Both individuals were diagnosed with CRC at ages 50 and 65, and both tumors had specific genetic characteristics, including mutations in BRAF.
- The identified RNF43 variant leads to an altered RNA and a nonfunctional protein, reinforcing the idea that RNF43 acts as a tumor suppressor in CRC development and should be considered in hereditary cancer predisposition studies.
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM.
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