LAUSR

Temple Syndrome and Kagami-Ogata Syndrome: Clinical Presentations, Genotypes, Models and Mechanisms.

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0 Published in 2020 at "Human molecular genetics"

DOI: 10.1093/hmg/ddaa133

Abstract: Temple Syndrome (TS) and Kagami-Ogata Syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions… read more here.

Keywords: temple syndrome; syndrome kagami; ogata syndrome; kagami ogata ... See more keywords

Using long-read sequencing to detect and subtype a case with Temple syndrome

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0 Published in 2025 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2024-110262

Abstract: Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy (matUPD), paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32.… read more here.

Keywords: case temple; temple syndrome; methylation; aberrant methylation ... See more keywords

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

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0 Published in 2019 at "Genome Medicine"

DOI: 10.1186/s13073-019-0633-y

Abstract: BackgroundIntrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neutral genomic intervals with runs of homozygosity… read more here.

Keywords: template switching; mechanism; temple syndrome; template ... See more keywords