Raine syndrome (RS) is a rare genetic disorder characterized by osteosclerotic bone dysplasia caused by a homozygous mutation, compound heterozygous mutation, or microdeletion in the FAM20C gene. In the present study, the MiSeq next-generation sequencing platform was used to perform the FAM20C gene sequence analysis. A novel homozygous variant c.1255T#x3e;C (p.W419R) in the FAM20C gene was diagnosed, and a nonlethal RS phenotype was confirmed, thus contributing to the expansion of the nonlethal RS phenotype. Since there is limited information about rare diseases, we believe that these studies will contribute to the literature and to the understanding of how these disorders develop and progress.
Mol Syndromol

中文翻译：

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由新型 FAM20C 变异引起的新生儿非致命性雷恩综合征

Raine 综合征 (RS) 是一种罕见的遗传性疾病，其特征是由FAM20C基因的纯合突变、复合杂合突变或微缺失引起的骨硬化性骨发育不良。本研究采用 MiSeq 新一代测序平台进行FAM20C基因序列分析。在FAM20C基因中诊断出一个新的纯合变异 c.1255T#x3e;C (p.W419R) ，并确认了非致死性 RS 表型，从而有助于非致死性 RS 表型的扩展。由于关于罕见疾病的信息有限，我们相信这些研究将有助于文献研究以及了解这些疾病如何发展和进展。
摩尔综合征