Publications by authors named "Christine H Umandap"
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, here we identify 28 individuals with neurodevelopmental delays from 21 families with bi-allelic variants in SPOUT1/CENP-32 detected by exome/genome sequencing.
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- The study focuses on a protein called SPOUT1/CENP-32, which is crucial for proper chromosome alignment during cell division.
- When this protein is depleted, it causes problems like centrosome detachment and chromosome misalignment, leading to significant developmental issues.
- The research also links genetic variants in humans to neurodevelopmental delays and identifies a disorder called SpADMiSS, characterized by symptoms like developmental delays, microcephaly, seizures, and short stature due to defects in cell division.