Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review |
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| Affiliation: | 1. Post Graduation Program in Medical Sciences, UFRGS, Porto Alegre, RS, Brazil;2. Department of Genetics, UFRGS, Porto Alegre, Brazil;3. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil;4. Clinical Genetics Service, IPPMG, UFRJ, Rio de Janeiro, Brazil;5. Department of Pediatrics, UFBA, Salvador, Brazil;6. Instituto Fernandes Figueira, FIOCRUZ, Rio de Janeiro, Brazil;7. Department of Pediatrics, UNCISAL, Maceió, Brazil;8. Department of Molecular Biology, FAMERP, São José do Rio Preto, Brazil;9. Department of Medical Genetics, UNICAMP, Campinas, Brazil;10. Medical Genetics Service, IMIP, Recife, Brazil;11. Mother and Child Department, UERJ, Rio de Janeiro, Brazil;12. Genetics and Metabolic Diseases Unit, INTA, University of Chile, Chile;13. Department of Genetics, ILCS-UNA, Asunción, Paraguay;14. Universidad Peruana Cayetano Heredia, Lima, Peru;15. Willink Biochemical Genetics Unit, Royal Manchester Children''s Hospital, Manchester, UK;p. Unidad de Genética Clínica, Hospital Roberto del Río, Santiago, Chile;1. Genetics Laboratory, NSW Health Pathology East, Sydney, Australia;;2. Newcastle GOLD Service, Hunter Genetics, Waratah, Australia;;3. Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, Australia;;4. Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;;5. The Children’s Hospital at Westmead, Sydney, Australia;;6. Department of Clinical Genetics, Austin Health, Melbourne, Australia;;7. South Australian Clinical Genetics Service, SA Pathology, Adelaide, Australia;;8. School of Medicine, The University of Adelaide, Adelaide, Australia;;9. King Edward Memorial Hospital, Perth, Australia;;10. Department of Clinical Genetics, Royal North Shore Hospital, Sydney, Australia;;11. Imagine Institute of Genetic Diseases, Paris, France;;12. Genetic Health Service New Zealand, Auckland, New Zealand;;13. Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia;;14. Victorian Clinical Genetics Services, Melbourne, Australia;;15. Murdoch Childrens Research Institute, Royal Children’s Hospital, Parkville, Australia;;16. Department of Paediatrics, The University of Melbourne, Melbourne, Australia;;17. Brisbane Genetics, Brisbane, Australia;;18. Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand;;19. Royal Brisbane & Women’s Hospital, Brisbane, Australia;;20. Institute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy;;21. Department of Pediatrics, School of Medicine UC Davis MIND Institute, Sacramento, California, USA;;22. Craniofacial Unit, Sydney Children’s Hospital, Randwick, Australia;;23. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA;;24. Neuroscience Research Australia and Prince.of Wales Clinical School, University of New South Wales, Sydney, Australia. |
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| Abstract: | This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. This clinical triad was initially named after the first person to describe it in 1993. Here, we report a family with two siblings who presented with unusual intestinal atresia and ocular and CNS abnormalities. The first patient is a 6-year-old-boy with apple peel duodeno-jejunal atresia, unilateral microphthalmia and microcephaly. The second patient, a younger brother, presented with intestinal atresia, corneal opacity and alobar holoprosencephaly and passed away at the age of 3 months. Exome sequencing showed a novel homozygous variant in the CENPF gene, NM_016343.3: c.1195-2 A > G that was detected in both of the affected siblings. This is a report and literature review of CENPF-related ciliopathy, which may result in Stromme syndrome. As this is the fourth report linking the CENPF gene variant with Stromme syndrome and first reported case presented with holoprosencephaly, it will expand the current knowledge on the genotype and the phenotype of Stromme syndrome. |
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| Keywords: | Stromme syndrome Homozygous variant Holoprosencephaly |
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