DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity
Purpose: cohort to date, to characterize the genotypic and phenotypic landscape of the disorder. Methods: Phenotypic data was manually curated from 95 individuals from multiple sources and harmonized using the Human Phenotype Ontology framework. Results: -related disorder, but microcephaly and brain MRI abnormalities were more common in this group. Conclusion: represents an attractive target for targeted therapy development.
Authors
- Manuela Pendziwiat (ORCID: https://orcid.org/0000-0001-8942-8334)
- Shiva Ganesan (ORCID: https://orcid.org/0000-0002-2518-6505)
- Jillian L. McKee (ORCID: https://orcid.org/0000-0001-9724-0403)
- Hongbo Xie (ORCID: https://orcid.org/0000-0003-2223-0029)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Gert Wiegand (ORCID: https://orcid.org/0000-0001-6244-2195)
- Alisa Mo (ORCID: https://orcid.org/0000-0002-6435-1227)
- Abiola Harrison
- Kim Marie Thalwitzer (ORCID: https://orcid.org/0000-0002-6647-5864)
- Andreas van Baalen (ORCID: https://orcid.org/0000-0001-7988-5224)
- Shridhar Parthasarathy (ORCID: https://orcid.org/0000-0001-7415-801X)
- Jan Magielski (ORCID: https://orcid.org/0000-0001-7290-4939)
- Annapurna Poduri
- Rohit Lobo
- Katrin Ounap
- Sarah M Ruggiero
- Ingo Helbig
- Valeria Capra
- Ange-Line Bruel
Institutions
- Boston Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Inserm (FR)
- Université de Bourgogne (FR)
- Istituto Giannina Gaslini (IT)
- Tartu University Hospital (EE)
- Christian-Albrechts-Universität zu Kiel (DE)
- NeuroDevelopment Center (US)
- Asklepios Kliniken Hamburg (DE)
- University of Pennsylvania (US)
- University of Genoa (IT)
Publication Details
- Journal
- medRxiv
- Published
- 2026-04-06
- DOI
- https://doi.org/10.64898/2026.04.05.26350183
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00