Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
| Autor: | Gabriela Ferraz Leal, João Ricardo Mendes de Oliveira, Laura Durão Ferreira |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Neurology Depressed nasal bridge Adolescent Mutation Missense Raine syndrome Cellular and Molecular Neuroscience symbols.namesake medicine Missense mutation Dentition Exophthalmos Humans Neurochemistry Amelogenesis imperfecta Abnormalities Multiple Low-set ears Sanger sequencing Extracellular Matrix Proteins business.industry Casein Kinase I General Medicine medicine.disease Cleft Palate Phenotype symbols Microcephaly medicine.symptom business Osteosclerosis |
| Zdroj: | Journal of molecular neuroscience : MN. 71(12) |
| ISSN: | 1559-1166 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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