Wen Hanying, Wu Ke, Shu Qingqing, He Xin, Xue Qingxia
Prenatal Diagnosis Center, Quzhou Maternal and Child Health Care Hospital, Quzhou, Zhejiang 324000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):586-590. doi: 10.3760/cma.j.cn511374-20220329-00173.
To analyze the clinical phenotype and genetic characteristics of a patient with Isidor-Toutain spinal epiphyseal dysplasia (SEMD) due to variant of RPL13 gene.
A pregnant woman at 18 weeks of gestation who had presented at Quzhou Maternal and Child Health Care Hospital on January 14, 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out for the patient, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.
The woman was 37 years old with extremely short stature (135 cm) and "O" shaped legs. WES revealed that she has harbored a c.548G>C (p.Arg183Pro) missense variant of the RPL13 gene (NM_000977.4). The same variant was not found in her fetus. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4).
Isidor-Toutain type SEMD due to variants of the RPL13 gene may have variable expressivity and diverse clinical phenotypes. Above finding has facilitated the differential diagnosis and genetic counseling for this family.
分析1例因RPL13基因变异导致的伊西多尔 - 图坦脊柱骨骺发育不良（SEMD）患者的临床表型和遗传特征。
选取2023年1月14日在衢州市妇幼保健院就诊的1例孕18周孕妇作为研究对象。对该患者进行全外显子组测序（WES），并通过桑格测序和生物信息学分析验证候选变异。
该女性37岁，身材极度矮小（135 cm）且有“O”形腿。WES显示她携带RPL13基因（NM_000977.4）的c.548G>C（p.Arg183Pro）错义变异。其胎儿未发现相同变异。根据美国医学遗传学与基因组学学会（ACMG）的指南，该变异被预测可能致病（PS4+PM2_Supporting+PP3+PP4）。
因RPL13基因变异导致的伊西多尔 - 图坦型SEMD可能具有可变表达性和多样的临床表型。上述发现有助于该家庭的鉴别诊断和遗传咨询。
