Publications by authors named "Megan Boothe"
Article Synopsis
- Mitochondrial trifunctional protein deficiency is a disorder affecting long-chain fatty acid metabolism, leading to severe heart issues like cardiomyopathy and arrhythmias.
- Triheptanoin, a synthetic medium-chain triglyceride, has shown potential to improve cardiomyopathy in some cases, although research is limited for severe presentations.
- A case is presented of a newborn with severe disease who did not improve despite receiving mechanical support and triheptanoin treatment.
Article Synopsis
- * Two unrelated patients with mutations in NUDCD2 displayed similar severe health issues such as dysmorphic facial features, brain and organ abnormalities, and significant muscle weakness leading to early death.
- * Analysis indicates that a lack of NUDCD2 protein in one patient's cells supports the idea that deficiencies in this gene may lead to a syndrome resembling a ciliopathy, along with additional health complications.
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascertained seven new patients from six unrelated families harboring biallelic variants in ARV1, including five novel variants. Affected individuals showed psychomotor delay, hypotonia, early onset refractory seizures followed by regression and specific neuroimaging features.
View Article and Find Full Text PDFPurpose: Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein translation. However, it remains unknown why ARS deficiencies lead to specific symptoms, especially early life and during infections.
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- JARID2 is located on chromosome 6p22.3 and is linked to intellectual disability (ID) through deletions and variants that affect its expression in human neurons.
- Previous studies had identified 13 individuals with de novo deletions involving JARID2 but could not definitively attribute their clinical features solely to this gene due to other neighboring gene deletions.
- This study expands the findings to 16 individuals who show developmental delay and overlapping clinical characteristics, confirming that haploinsufficiency of JARID2 is responsible for a distinct neurodevelopmental syndrome.
Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes for these patients. Systemic findings are also common, with craniofacial, skeletal, and auditory systems often involved.
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