摘要
目的分析1例RPL13基因变异致Isidor-Toutain型脊柱骨骺干骺端发育不良(SEMD)患者的临床表型与遗传学特点。方法选择2023年1月14日于衢州市妇幼保健院就诊的1例孕18周的患者作为研究对象。对其进行全外显子组测序(WES),对候选变异进行生物信息学分析,并用Sanger测序进行家系验证。结果患者为37岁女性,身高仅135 cm,双腿呈"O"字型。WES发现其携带RPL13基因c.548G>C(p.R183P)杂合变异,胎儿未携带该变异。根据美国医学遗传学与基因组学学会(ACMG)相关指南,该变异被评定为可能致病性(PS4+PM2_Supporting+PP3+PP4)。结论RPL13基因变异导致的Isidor-Toutain型SEMD存在临床表型多样的特点。上述发现有助于提高临床医师对该病的识别和遗传咨询能力。
Objective To analyze the clinical phenotype and genetic characteristics of a patient with Isidor-Toutain spinal epiphyseal dysplasia(SEMD)due to variant of RPL13 gene.Methods 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.Results 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).Conclusion 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.
作者
温汉英
吴轲
舒青青
何鑫
薛青霞
Wen Hanying;Wu Ke;Shu Qingqing;He Xin;Xue Qingxia(Prenatal Diagnosis Center,Quzhou Maternal and Child Health Care Hospital,Quzhou,Zhejiang 324000,China;Department of Laboratory Medicine,Quzhou Maternal and Child Health Care Hospital,Quzhou,Zhejiang 324000,China;Laboratory of Prenatal Diagnosis,Quzhou Maternal and Child Health Care Hospital,Quzhou,Zhejiang 324000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2024年第5期586-590,共5页
Chinese Journal of Medical Genetics
基金
衢州市科技攻关计划(2023ZD084、2023K183)。
