Publications by authors named "L Rives"
Article Synopsis
- Autosomal dominant congenital disorder of glycosylation (CDG) type Iw is caused by a mutation in a specific gene and differs from most CDGs, which are typically autosomal recessive.
- A 17-year-old male presented with a range of symptoms including macrocephaly, epilepsy, and developmental delays, but initial genetic tests and biochemical analyses did not indicate a clear diagnosis.
- Genome sequencing revealed a novel mutation that disrupts a glycosylation site, and the patient was ultimately diagnosed with CDG type Iw based on abnormal transferrin profiling, illustrating the variability in genetic disorders and the need for comprehensive testing.
Purpose: Variants in result in a rare neurodevelopmental disorder characterized by a variable clinical presentation of symptoms including developmental delay, epilepsy, motor dysfunction, and autism spectrum disorder. haploinsufficiency has been confirmed as the predominant pathway of related neurodevelopmental disorders (NDDs), however, the molecular mechanism underlying the variable clinical presentation remains unclear.
Methods: Here, through work of the Undiagnosed Diseases Network, we identify an undiagnosed individual with an inherited p.
Article Synopsis
- The Undiagnosed Disease Network (UDN) is a collaborative effort funded by the NIH, focused on diagnosing rare diseases through 12 clinical sites, including Vanderbilt University Medical Center (VUMC).
- At VUMC, experts in fields like bioinformatics, structural biology, and genetics worked together to identify a rare genetic variant in a 5-year-old girl with various neurological issues.
- The team diagnosed her with Primary Aldosteronism, Seizures, and Neurologic abnormalities (PASNA), showcasing the value of a multidisciplinary approach in addressing complex, rare diseases.
Article Synopsis
- Recent research identified a new mutation linked to a rare axonal Charcot-Marie-Tooth disease in both Caucasian and black African families, expanding the understanding of its genetic basis.
- The study involved eight patients and their relatives, with a diagnosis average age of 33.9 years; common symptoms included walking difficulties, muscle weakness, and deformities in hands and feet.
- Whole exome sequencing uncovered a novel variant in the gene responsible, revealing notable decreases in protein levels and structural changes, emphasizing the importance of including diverse populations in genetic research.
Article Synopsis
- - A 26-year-old woman diagnosed with Diamond-Blackfan anemia (DBA) was referred to the Undiagnosed Diseases Network due to the lack of a specific genetic cause found for her condition.
- - Her case was uniquely identified as being influenced by digenic interactions, specifically involving variations in two different genes (RPS19 and RPL27), rather than the typical single-gene mutations usually associated with DBA.
- - The findings were supported by advanced techniques including machine learning models, co-segregation analysis, and RNA sequencing, highlighting that atypical presentations of DBA may arise from multiple gene interactions and not just single-gene effects.