<scp> <i>AMOTL1</i> </scp> ‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, <scp>CFCHS</scp> ): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities
We identified an AMOTL1 variant in a patient that adds evidence supporting the clinical and molecular overlap between AMOTL1-related disorders and other syndromes affecting craniofacial, cardiac, and hepatic development. As more cases are identified, we propose naming this entity as AMOTL1-associated multiple congenital anomalies or craniofaciocardiohepatic syndrome (CFCHS).
Authors
- Antonio Olveira (ORCID: https://orcid.org/0000-0002-2991-4688)
- María D. Lledín (ORCID: https://orcid.org/0009-0008-0929-7310)
- Karen Elise Heath (ORCID: https://orcid.org/0000-0002-5816-7044)
- Pablo Lapunzina (ORCID: https://orcid.org/0000-0002-6324-4825)
- Natalia Gallego (ORCID: https://orcid.org/0000-0002-7523-1474)
- Alejandro Parra (ORCID: https://orcid.org/0000-0002-4115-2065)
- Beatriz Morte (ORCID: https://orcid.org/0000-0003-0702-7815)
- Julián Nevado (ORCID: https://orcid.org/0000-0001-5611-2659)
- María Palomares‐Bralo (ORCID: https://orcid.org/0000-0002-2727-7654)
- Ãngel Carracedo (ORCID: https://orcid.org/0000-0003-1085-8986)
- Emily Larrea
- Jair Tenorio (ORCID: https://orcid.org/0000-0002-5308-2316)
- Mario Cazalla (ORCID: https://orcid.org/0009-0007-1931-0390)
- Elsa Lucas‐Castro (ORCID: https://orcid.org/0009-0001-3701-1657)
- Emma Soengas
Institutions
- Universidade de Santiago de Compostela (ES)
- Hospital Universitario La Paz (ES)
- Instituto de Salud Carlos III (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Fundación Pública Galega de Medicina Xenómica (ES)
- Servicio Gallego de Salud (ES)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1111/cge.14644
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Instituto de Salud Carlos III