Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features

• Published in: Journal of molecular neuroscience Vol. 71; no. 12; pp. 2482 - 2486
• Main Authors: Ferreira, Laura D., Leal, Gabriela F., de Oliveira, João Ricardo Mendes
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-12-2021; Springer Nature B.V
• Subjects: Abnormalities; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Amelogenesis imperfecta; Biomedical and Life Sciences; Biomedicine; Calcification; Case reports; Casein Kinase I - genetics; Casein Kinase I - metabolism; Cell Biology; Cleft Palate - genetics; Cleft Palate - pathology; Congenital defects; Dentition; DNA sequencing; Ears & hearing; Enamel; Endocrine system; Exophthalmos - genetics; Exophthalmos - pathology; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - metabolism; Humans; Leucine; Male; Medical imaging; Microcephaly - genetics; Microcephaly - pathology; Mutation, Missense; Neurochemistry; Neurology; Neurosciences; Nose; Osteosclerosis - genetics; Osteosclerosis - pathology; Patients; Phenotype; Proline; Proteomics; Teeth; Brain calcification; FAM20C; Facial dysmorphia; Developmental delay; Raine syndrome
• ISSN: 0895-8696; 1559-1166
• DOI: 10.1007/s12031-021-01873-z

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.