Novel mutation in<i> PARS2</i> revealed highly variable phenotype of developmental and epileptic encephalopathy-75

作者全名："Hu, Xuyun; Guo, Ruolan; Hao, Chanjuan; Hao, Lijuan"

作者地址："[Hao, Lijuan] Chongqing Med Univ, Women & Childrens Hosp, Chongqing Hlth Ctr Women & Children, Dept Obstet & Gynecol, Chongqing 401147, Peoples R China; [Hu, Xuyun; Guo, Ruolan; Hao, Chanjuan] Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Key Lab Genet Birth Defects, Beijing Pediat Res Inst,Beijing Childrens Hosp, Beijing 100045, Peoples R China"

通信作者："Hao, LJ (通讯作者)，Chongqing Med Univ, Women & Childrens Hosp, Chongqing Hlth Ctr Women & Children, Dept Obstet & Gynecol, Chongqing 401147, Peoples R China."

来源：GENE

ESI学科分类：MOLECULAR BIOLOGY & GENETICS

WOS号：WOS:001122814100001

JCR分区：Q2

影响因子：2.6

年份：2024

卷号：894

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：Developmental and epileptic encephalopathy; PARS2 gene; Mitochondrial tRNA synthetase; Ovarian dysfunction; Intellectual disability

摘要："Background and aims: Biallelic variants in mitochondrial prolyl-tRNA synthetase 2 (PARS2) are associated with developmental and epileptic encephalopathy-75 (DEE75), which is characterized by global developmental delay, seizures and brain imaging anomalies. To date, fewer than 20 patients with PARS2 mutation have been reported in previous literature, and only ten of them had detailed phenotype information.Materials and methods: In our study, we performed whole exome sequencing for three intellectual disability patients from one family.Results: Two novel missense PARS2 variants, c.467C>G (p. Pro156Arg) and c.1183G>C (p. Asp395His), were identified. All of our patients displayed profound intellectual disability and absent speech, while other features, including seizures, cardiomyopathy, short stature and brain MRI, varied greatly in this family. This is also the first report of ovarian dysfunction in association with PARS2 mutations.Conclusions: We reported three patients with the longest lifespan in reported cases so far, and our results provided an opportunity to study DEE75 prognosis and symptoms in adulthood. Our results further extended the clinical and genetic spectra of PARS2 gene mutation."

基金机构：National Natural Science Foundation of China [82000745]; Beijing Municipal Health Commission Foundation [2022-2-1142]; Chongqing medical scientific research project (Joint project of Chongqing Health Commission and Science and Technology Bureau) [2022ZDXM009]

基金资助正文："This work was supported by grants from the National Natural Science Foundation of China [grant number 82000745], the Beijing Municipal Health Commission Foundation [grant number 2022-2-1142] and the Chongqing medical scientific research project (Joint project of Chongqing Health Commission and Science and Technology Bureau) [grant number 2022ZDXM009]."