Eli Hatchwell
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Genetics of progressive multifocal leukoencephalopathy: update on case reports with an inborn error of immunity and risk variants found in drug-linked cases Open
A genetic predisposition to PML is now substantially supported by case reports of patients molecularly diagnosed with an inborn error of immunity (IEI) and progressive multifocal leukoencephalopathy (PML). Over the past 10 years, 4 IEI gen…
When is an SNP not an SNP? Open
Genomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variant…
Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies Open
Background Progressive multifocal leukoencephalopathy (PML) is a rare and often lethal brain disorder caused by the common, typically benign polyomavirus 2, also known as JC virus (JCV). In a small percentage of immunosuppressed individual…
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice Open
Background Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL variants typical…
Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency Open
In an unbiased genome-wide screen for copy number variants (CNVs) on a cohort of Parkinson's disease (PD) patients, we identified in one patient a complex chromosomal rearrangement involving the nucleotide binding protein-like (NUBPL) gene…
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum Open
Background The nucleotide binding protein-like ( NUBPL ) gene was first reported as a cause of mitochondrial complex I deficiency (MIM 613621, 618242) in 2010. To date, only eight patients have been reported with this mitochondrial disorde…
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy Open
Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disorder of the brain caused by reactivation of the JC virus (JCV), a polyomavirus that infects at least 60% of the population but is asymptomatic or results in benig…
The 22q11 <i>PRODH/DGCR6</i> deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD Open
The proline dehydrogenase (PRODH) gene maps to 22q11.2 in the region deleted in the velo‐cardio‐facial syndrome (VCFS). A moderate to severe reduction (>50%) in PRODH activity resulting from recessive deletions and/or missense mutations ha…