Publications by authors named "L C Burrage"
The Matter at Hand: A Case of Difficult-to-Treat Arthritis.
Arthritis Care Res (Hoboken)
December 2024
Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four individuals with one of two , heterozygous variants (NM_004655.4:c.
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- GTPases from the Rab family play a crucial role in membrane trafficking, and issues with these proteins have been linked to various neurological disorders, particularly involving RAB11A variants causing developmental and epileptic encephalopathy.
- The study examined 16 patients with RAB11A variants, mostly de novo heterozygous missense mutations, finding that these variants are associated with intellectual disability, developmental delays, and a range of other physical and neurological symptoms.
- The research suggests that while epilepsy is less common and less severe in patients with binding site mutations, the RAB11A neurodevelopmental disorder can affect multiple body systems, including gait, muscle tone, brain structure, and even fat distribution.
Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic.
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- * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
- * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.