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A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
Characterization of a novel allele harboring a c.28 + 5G>A mutation on the background: a study utilizing PacBio third-generation sequencing and functional assays.
Front Immunol
January 2025
Blood Group Reference Laboratory, Dalian Blood Center, Dalian, China.
Background: Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel allele arising from an intron splice site mutation, which altered the expected A phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.
View Article and Find Full Text PDFDominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.
Exp Anim
December 2024
Deafness Project, Department of Basic Medical Sciences, Tokyo Metropolitan Institute of Medical Science.
An unconventional myosin, myosin VI gene (MYO6), contributes to recessive and dominant hearing loss in humans and mice. The Kumamoto shaker/waltzer (ksv) mouse is a model of deafness resulting from a splice-site mutation in Myo6. While ksv/ksv homozygous mice are deaf due to cochlear hair cell stereocilia fusion at the neonatal stage, the hearing phenotypes of ksv/+ heterozygous mice have been less clear.
View Article and Find Full Text PDFDiagnostic Ambiguity Caused by an Atypical e18a2 Transcript in a Chronic Myeloid Leukemia Patient.
Case Rep Hematol
November 2024
Labor Berlin Charité-Vivantes, Berlin, Germany.
We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 :: transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (:: on der(22) and :: on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of led to the generation of an in-frame :: fusion transcript.
View Article and Find Full Text PDFA De Novo Splicing Mutation of in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.
Int J Mol Sci
October 2024
Department of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.
Deleterious variations in are responsible for early infantile epileptic encephalopathy type 4 (EIEE4, OMIM # 612164) because of its dysfunction in the central nervous system. The clinical spectrum of the neurodevelopmental delays associated with STXBP1 aberrations is collectively defined as encephalopathy (-E), the conspicuous features of which are highlighted by early-onset epileptic seizures without structural brain anomalies. A girl was first diagnosed with unexplained disorders of movement and cognition, which later developed into -E with unexpected leukoaraiosis and late onset of seizures.
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