Varun Suresh, Bidisha Bhattacharya, Rami Yair Tshuva, Miri Danan Gotthold, Tsviya Olender, Mahima Bose, Saurabh J Pradhan, Bruria Ben Zeev, Richard Scott Smith, Shubha Tole, Sanjeev Galande, Corey C Harwell, José-Manuel Baizabal, Orly Reiner
PRDM16 is a dynamic transcriptional regulator of various stem cell niches, including adipocytic, hematopoietic, cardiac progenitors, and neural stem cells. PRDM16 has been suggested to contribute to 1p36 deletion syndrome, one of the most prevalent subtelomeric microdeletion syndromes. We report a patient with a de novo nonsense mutation in the PRDM16 coding sequence, accompanied by lissencephaly and microcephaly features. Human stem cells were genetically modified to mimic this mutation, generating cortical organoids that exhibited altered cell cycle dynamics...
2024: Oxf Open Neurosci