Keizo Asami Laboratory, Universidade Federal de Pernambuco, Av. Professor Moraes Rego, 1235, Cidade Universitária, Recife-PE, 50670-901, Brazil.
Medical Genetics Service, Instituto de Medicina Integral Professor Fernando Figueira, Recife, Brazil.
J Mol Neurosci. 2021 Dec;71(12):2482-2486. doi: 10.1007/s12031-021-01873-z. Epub 2021 Jul 14.
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.
Raine 综合征是一种罕见的常染色体隐性遗传病，常伴有严重程度不一的先天性畸形。鉴于该综合征的几例病例报告均描述了死胎或围产期死亡，因此缺乏关于轻度、非致死性病例临床表现和发病机制的信息。考虑到这一点，在本病例报告中，我们描述了一位 14 岁巴西患者的临床、口腔-牙科和骨骼表现，该患者被诊断为轻度非致死性 Raine 综合征。该患者仅有非常轻微的面部畸形，无鼻发育不全、小下颌、低位耳或鼻梁凹陷，即使在其他轻度、非致死性 RS 病例中也很少见。此外，该患者还有双侧脑钙化和一系列口腔-牙科异常，如牙釉质发育不全和复发性牙周脓肿。对患者基因组 DNA 的 Sanger 测序鉴定出 FAM20C 基因（NM_020223.4）exon 9 处的纯合错义变异 c.1487C>T，该变异导致 496 位脯氨酸突变为亮氨酸（p.P496L，NP_064608.2），此前已有报道，这允许对这些病例进行表型比较。因此，本病例报告提醒人们 Raine 综合征的表现可能大不相同，强调了新的非致死性 Raine 综合征病例报告的重要性，以帮助进一步确定该疾病的表型谱。
