Abstract
Raine syndrome is a rare, often lethal autosomal recessive condition marked by congenital malformations that range in severity. Considering that several case reports of this syndrome describe cases of stillbirth or perinatal death, information about the clinical presentation and development of this condition in mild, non-lethal cases is lacking. With that in mind, in this case report, we describe the clinical, oro-dental, and skeletal findings of a 14-year-old Brazilian patient diagnosed with a mild form of non-lethal Raine syndrome. This patient has very mild facial dysmorphia, not displaying hypoplastic nose, micrognathia, low set ears or depressed nasal bridge, which is uncommon even in other mild, non-lethal cases of RS. Furthermore, this patient has bilateral brain calcifications and a series of oro-dental abnormalities, such as amelogenesis imperfecta and recurrent periodontal abcesses. Sanger sequencing of genomic DNA identified a homozygous missense variant c.1487C > T at exon 9 of FAM20C (NM_020223.4) in the patient. The patient’s mother carries the same variant but is heterozygous. This variant predicts a proline to leucine substitution in position 496 (p.P496L, NP_064608.2) previously reported, which allows for the phenotypic comparison between these cases. This way, this case report calls attention to how differently RS can appear, highlighting the importance of new non-lethal Raine syndrome case reports to help further determine the phenotypic spectrum of this condition.
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Acknowledgements
We would like to thank the patient and his family for their participation in the study. We would also like to thank H. Leal for technical support.
Funding
LDF received a fellowship grant from Fundação de Amparo à Ciência e Tecnologia de Pernambuco (FACEPE; IBPG-0750–2.02/16). JRMO received funding from Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq; 310150/2016–7 and 311664/2020–2) and PROPESQ-UFPE (2018–2019).
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All the authors contributed to the study conception and design. LDF performed genetic analysis and literature review, and drafted the manuscript. GFL performed clinical evaluation and revised the manuscript. JRMO monitored the study execution and revised the manuscript. All the authors have read and approved the final manuscript.
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Ethics approval for study execution was obtained from the Universidade Federal de Pernambuco institutional review board (Comitê de Ética em Pesquisa) under the CAAE-0296.0.172.000–08 registry.
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Consent to study was obtained from the patient’s legal guardian, and the patient provided assent to participate. Study participants were informed about the study design, its benefits and risks, and provided consent and assent to undergo genetic testing, as well as the processing of personal data and publication of clinical data and pictures.
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Ferreira, L.D., Leal, G.F. & de Oliveira, J.R.M. Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features. J Mol Neurosci 71, 2482–2486 (2021). https://doi.org/10.1007/s12031-021-01873-z
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DOI: https://doi.org/10.1007/s12031-021-01873-z