Publications by authors named "Katherine J Anderson"
Runt-related transcription factor 1 translocated to 1 (RUNX1T1; also known as eight-twenty-one [ETO]) encodes a transcription regulator for hematopoietic genes and is well known for its involvement in hematologic malignancies, particularly acute myeloid leukemia (AML). However, its role in congenital disease is less understood. This study provides detailed clinical and molecular information on three cases exhibiting neurodevelopmental and congenital anomalies with germline de novo alterations in RUNX1T1.
View Article and Find Full Text PDFMADD-like pattern of acylcarnitines associated with sertraline use.
Mol Genet Metab Rep
December 2024
Article Synopsis
- - Multiple acyl-CoA dehydrogenase deficiency (MADD) is a mitochondrial disorder caused by genetic mutations affecting fatty acid and protein metabolism, with symptoms varying from congenital anomalies in infants to later onset cases.
- - Two cases of women (ages 22 and 61) exhibited MADD-like biochemical profiles linked to sertraline, an antidepressant, despite negative genetic tests for MADD-related genes.
- - Discontinuation of sertraline led to normalization of metabolic profiles and improvement in symptoms, suggesting a potential link between the medication and mitochondrial dysfunction.
Ring chromosome 14 is a rarely observed chromosomal abnormality characterized by a circular, ring-like appearance in one or both copies of chromosome 14. Ring chromosome 14 syndrome (OMIM #616606) is marked by global developmental delays, drug-resistant epilepsy, microcephaly, and ocular abnormalities. To date, fewer than 100 cases of ring chromosome 14 syndrome have been described in the medical literature.
View Article and Find Full Text PDFArticle Synopsis
- This study focuses on the gene RAB11B, which has been linked to severe intellectual disability, aiming to validate its role in neurodevelopmental disorders.* -
- Researchers identified seven new individuals with genetic variants in RAB11B, analyzing their clinical features and using molecular modeling to understand the structural effects of these variants.* -
- Findings indicate a strong correlation between the specific genetic variants and the severity of symptoms, with certain mutations linked to more severe disabilities while others lead to milder issues like epilepsy.*
Ornithine transcarbamylase deficiency (OTCD) is an X-linked inborn error caused by loss of function variants in the OTC gene typically associated with severe neonatal hyperammonemia. Rare examples of late-onset OTCD have also been described. Here, we describe an OTC promoter variant, c.
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