中华医学遗传学杂志最新文献

{"title":"[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].","authors":"Jie Deng, Zhi Zhou, Duo Zhou, Renliang Huang, Min Guo, Qiaomiao Zhou","doi":"10.3760/cma.j.cn511374-20240902-00466","DOIUrl":"10.3760/cma.j.cn511374-20240902-00466","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD).</p><p><strong>Methods: </strong>A pedigree affected with PCD who visited Hainan Women and Children's Medical Center in April 2023 due to \"SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child\" was selected as the study subject. Pathogenicity of the proband's variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Sanger sequencing was used to verify the variant sites of SLC22A5 gene in the proband and her parents, and the single nucleotide polymorphism (SNP) haplotype of the family was constructed by SNP microarray (SNP array) method to determine the carrier status of pathogenic genes. After fertilization via assisted reproductive technology, whole genome amplification (WGA) was performed on the biopsied trophoblastic cells. Sanger sequencing, next-generation sequencing (NGS), and SNP array techniques were then used to detect the variants in the SLC22A5 gene and chromosome copy number variation (CNV) in the embryos. Embryos without the variants were selected for transferring. After the successful pregnancy of the proband's mother, amniocentesis was not performed for prenatal diagnosis due to repeated vaginal bleeding. After delivery, neonatal peripheral blood sample was collected to verify the results of PGT-M, and follow-up was conducted. This study was reviewed and approved by the Medical Ethics Committee of Hainan Women and Children's Medical Center (Ethics No. HNWCMC-2022-178).</p><p><strong>Results: </strong>In this study, the c.338G>A and c.760C>T variants in SLC22A5 gene were evaluated as pathogenic variants. Sanger sequencing results of this family showed that the c.338G>A and c.760C>T variants of the proband were inherited from his father and mother, respectively. Haplotypes of c.338G>A and c.760C>T variants of SLC22A5 gene were successfully constructed. PGT-M results showed that 2 of the 8 blastulas biopsied failed WGA, and the CNV detection results of the remaining 6 blastocysts were all euploid: 2 had no mutations in the SLC22A5 gene, 3 were single heterozygous carriers of paternal or maternal origin, and 1 was compound heterozygous carriers of paternal and maternal origin. Combined with the embryo morphology score, an intrauterine singleton pregnancy was achieved after the successful transfer of an optimal embryo with no CNV abnormalities and no paternal or maternal SLC22A5 gene mutations, resulting in the birth of a healthy female baby at 38<sup>+3</sup> weeks of gestation. The results of peripheral blood chromosomal karyotyping analysis, CNV detection and SLC22A5 gene c.338G>A and c.760C>T site variant detection of the infant were consistent with those of PGT-M, and n","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1483-1490"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Optical genome mapping technology and its applications in genetic disease diagnosis].","authors":"Jianlin Zhang, Junrong Zhang, Min Su, Yuquan Zhang","doi":"10.3760/cma.j.cn511374-20240829-00456","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240829-00456","url":null,"abstract":"<p><p>Optical genome mapping (OGM) is an emerging technology for the detection of genetic diseases based on physical mapping, which can detect numerical chromosomal abnormalities, copy number variation (CNV) and structural variation (SV) on a genome-wide scale. In recent years, a number of studies have proved that OGM, as a new generation of cytogenomic technique, has higher resolution and stronger ability to discover genomic variants compared with conventional genetic techniques. This article has systematically reviewed the principles, characteristics, advantages and limitations of OGM technology, and its applications in the diagnosis of genetic disorders.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1496-1502"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of neonatal Mitochondrial DNA depletion syndrome type 13 caused by FBXL4 gene mutation].","authors":"Yuanyuan Zhu, Chenhong Wang, Junjin Chen, Xiaohong Wang, Xiaolu Ma","doi":"10.3760/cma.j.cn511374-20240630-00360","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240630-00360","url":null,"abstract":"<p><strong>Objective: </strong>To explore the clinical phenotypes and genetic variant in a neonatal case of Mitochondrial DNA depletion syndrome type 13 (MTDPS13).</p><p><strong>Methods: </strong>Clinical data and results of genetic testing of a neonate admitted to the Children's Hospital of Zhejiang University School of Medicine in January 2023 was retrospectively analyzed. The study was approved by the Medical Ethics Committee of the Children's Hospital of Zhejiang University.</p><p><strong>Results: </strong>The male infant was admitted to the NICU due to tachypnea and persistent lactic acidosis 6 hours after birth. At admission, distinctive facial features were noted. Laboratory tests showed elevated lactic acid (< 30 mmol/L). Whole-exome sequencing revealed that he has harbored homozygous c.141del frameshift mutation of FBXL4 gene, which was unreported previously. The mutation was inherited from both of his parents and classified as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).</p><p><strong>Conclusion: </strong>The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c.141del variant of the FBXL4 gene may be accountable.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1463-1468"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].","authors":"Dan Zhang, Fang Xu, Yi Bao, Yanming Xu","doi":"10.3760/cma.j.cn511374-20240927-00510","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240927-00510","url":null,"abstract":"<p><strong>Objective: </strong>To report and analyze a case of Juvenile neuronal ceroid lipofuscinosis (NCL) due to compound heterozygous variants of PPT1 gene.</p><p><strong>Methods: </strong>A child who was admitted to the Department of Neurology of West China Hospital of Sichuan University in April 2021 due to \"intellectual decline and behavioral abnormalities for more than 5 years and movement disorder for more than 1 year\" was selected as the study subject. Clinical data of the child was collected. Trio-whole exome sequencing was carried out for the child and his parents, and clinical follow-up was conducted. This study has been approved by the Medical Ethics Committee of West China Hospital of Sichuan University (Ethic No. 2024-2286).</p><p><strong>Results: </strong>The patient, a 13-year-old male, showed progressive mental decline, behavioral abnormalities, and movement disorders from the age of 8. Electroencephalogram showed abnormal background activities, and magnetic resonance imaging showed brain atrophy. Trio-whole exome sequencing revealed that he had harbored a paternally derived heterozygous c.272(exon3)A>C variant and a maternally derived heterozygous c.176(exon2)A>G variant of the PPT1 gene. His presentation was in keeping with previously reported juvenile NCL due to variants of the PPT1 gene.</p><p><strong>Conclusion: </strong>The c.272(exon3)A>C and c.176(exon2)A>G compound heterozygous variants of the PPT1 gene probably underlay the Juvenile NCL in this child. Discovery of the c.176(exon2)A>G variant has expanded the mutational spectrum of this disease.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1469-1472"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress on pathogenic germline mutations in malignant tumors].","authors":"Fang Wu, Xiaowen Wang, Hongmei Zhang","doi":"10.3760/cma.j.cn511374-20240419-00244","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240419-00244","url":null,"abstract":"<p><p>Malignant tumors are closely related to various genetic and environmental factors. Pathogenic germline gene mutations play a key role in the occurrence and development of some malignant tumors. Some germline mutations can increase the risk of malignant tumors. For example, those with homologous recombination repair gene BRCA1/2 mutations are prone to breast cancer, ovarian cancer, etc., and some germline mutations are associated with genetic syndromes. For instance, 80% of hereditary non-polyposis colon cancers are associated with mutations in mismatch repair genes such as MLH1 and MLH2. In addition, 70% of Li-Fraumeni syndrome patients have harbored germline TP53 mutations. With the development of next-generation sequencing technology, more and more germline gene mutations have been discovered recently, which is of great significance for the prevention, screening, and treatment of tumors. This article has provided a review for common germline mutations, detection methods, and advances in drug therapy.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1508-1515"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Study of factors associated with the false-positive rate of second-trimester serological screening in 632,825 cases in Sichuan based on propensity score matching].","authors":"Zhiling Wu, Min Ou, Mengling Ye, Guangming Deng, Yi Deng, Xueyan Wang","doi":"10.3760/cma.j.cn511374-20240701-00362","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240701-00362","url":null,"abstract":"<p><strong>Objective: </strong>To retrospectively analyze the results of second-trimester serological prenatal screening and explore the factors which may influence the false-positive rate (FPR).</p><p><strong>Methods: </strong>From January 2013 to December 2022, false-positive samples with follow-up outcomes from 632,825 second-trimester serological prenatal screening samples tested at Sichuan Provincial Maternity and Child Health Care Hospital were selected as the study group, while true-negative samples were 1 : 1 matched as the control group by propensity-score matching (PSM). Univariate and binary logistic regression models were used to analyze the influencing factors. This study was approved by the Medical Ethic Committee of Sichuan Provincial Maternity and Child Health Care Hospital (Ethic No. 20240607-270).</p><p><strong>Results: </strong>The study and control groups were each matched with 305,998 cases. Univariate analysis showed that sampling season, the difference between ultrasound and gestational weeks calculated by last menstrual period (LMP), monthly median multiple of the median (mMoM) of alpha-fetoprotein (AFP), and monthly mMoM of free β -human chorionic gonadotropin (free β -hCG) were significantly different between the two groups (P < 0.05). Binary logistic regression analysis showed that Winter (OR = 0.938; 95%CI: 0.893 ~ 0.985), monthly AFP mMoM ≥ 1.11 (OR = 0.846; 95%CI: 0.761 ~ 0.941), monthly free β -hCG mMoM ≥ 0.89 (OR = 0.827; 95%CI: 0.737 ~ 0.929) are protective factors for FPR increase, whilst Spring (OR = 1.124; 95%CI: 1.072 ~ 1.179), Summer (OR = 1.121; 95%CI: 1.062 ~ 1.183), the difference between ultrasound and gestational weeks calculated by LMP of 8 ~ 14 days (OR = 1.319; 95%CI: 1.241 ~ 1.402), < 14 days (OR = 1.689; 95%CI: 1.542 ~ 1.850), monthly AFP mMoM of 0.90 ~ 0.94 (OR = 1.088; 95%CI: 1.046 ~ 1.131), and monthly free β -hCG mMoM of 1.05 ~ 1.10 (OR = 1.046; 95%CI: 1.000 ~ 1.094), ≥ 1.11 (OR = 1.062; 95%CI: 1.002 ~ 1.126) are risk factors for FPR increase.</p><p><strong>Conclusion: </strong>Sampling season, difference between ultrasound and gestational weeks by LMP, monthly AFP mMoM, and monthly free β -hCG mMoM are risk factors for FPR during serological prenatal screening. Screening laboratories should look for the cause of abnormal FPR through such factors and adjust them accordingly.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1432-1440"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].","authors":"Qingxian Fu, Zhen Li, Shiyi Xu, Lingling Du, Huishu E, Limei Guan","doi":"10.3760/cma.j.cn511374-20240627-00356","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240627-00356","url":null,"abstract":"<p><strong>Objective: </strong>To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics.</p><p><strong>Methods: </strong>LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children's Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared. Clinical data of the children were collected and analyzed. This study has been approved by the Medical Ethics Committee of the Fujian Children's Hospital (Ethic No. 2022ETKLR10024).</p><p><strong>Results: </strong>Of the 30 children with 21-OHD, 11 (36.7%) were found to carry CYP21A1P/CYP21A2 and TNXA/TNXB fusion genes by LRS. The most common type of fused CYP21A1P/CYP21A2 gene was CH-1 (72.7%), and 1 (3.3%) was found to harbor TNXA/TNXB CH-1. Eleven cases (36.7%) were found to carry large deletions by Sanger sequencing combined with MLPA, with the most common one being CYP21A2 exons 1-3 del (72.7%), which was followed by CYP21A2 exons 1-7 del (18.2%). Follow up of 11 patients carrying a fusion gene revealed that 6 were sale wasting (SW) types, 5 were simple virilizing (SV) types, whilst no non-classical (NC) type was found. Four girls had presented with central precocious puberty (CPP). One child carrying TNXA/TNXB CH-1 had presented with CAH-X syndrome.</p><p><strong>Conclusion: </strong>Compared with Sanger sequencing combined with MLPA detection method, LRS sequencing was able to differentiate the subtypes of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genes, pinpoint the breakpoints of the deletions, and directly determine the cis-trans position without the need to analyze the genotype of the pedigree members, which has provided a reliable method for the typing of 21-OHD. As some fusion genes may retain 21-hydroxylase activity, female carriers may have a higher incidence of CPP.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1416-1425"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress on the cognitive deficit of Down syndrome patients].","authors":"Weili Shi, Shixiu Liao","doi":"10.3760/cma.j.cn511374-20240624-00350","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240624-00350","url":null,"abstract":"<p><p>As the most common chromosomal disorder compatible to life, Down syndrome (DS) is caused by an extra copy of chromosome 21. Almost all DS patients have cognitive dysfunction. Therefore, it is important to study the underlying pathogenetic mechanism to elucidate its molecular basis. This article has provided a review for the molecular mechanisms of NRIP1 and DYRK1A genes, which have been closely associated with the cognitive dysfunctions of DS patients. It has also summarized the research progress on the mechanism of DS and development of new therapeutic strategies based on such studies, with an aim to provide insights into the prevention and treatment for the cognitive dysfunctions in DS patients.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1503-1507"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of association of SP-C gene polymorphisms with Neonatal respiratory distress syndrome].","authors":"Qian Tang, Sijie Li, Yingyuan Wang, Yuan Wei","doi":"10.3760/cma.j.cn511374-20240911-00485","DOIUrl":"https://doi.org/10.3760/cma.j.cn511374-20240911-00485","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the association between pulmonary surfactant protein C (SP-C) gene polymorphisms and the risk of Neonatal respiratory distress syndrome (NRDS).</p><p><strong>Methods: </strong>Clinical data from 168 neonates diagnosed with NRDS (NRDS group) admitted between August 2020 and June 2023 were collected. Additionally, 168 neonates without respiratory distress, born during the same period, were included as the control group. Peripheral venous blood samples (2 mL each) were collected from both groups. PCR-restriction fragment length polymorphism technique was employed to detect the polymorphisms at the SP-C gene loci p.Thr138Asn (rs4715) and p.Ser186Asn (rs1124). Hardy-Weinberg equilibrium tests were conducted for genotyping, and genotypic and allelic frequencies were compared. The association between SP-C gene polymorphisms and NRDS risk was evaluated. Furthermore, genotypic and allelic frequencies at the rs4715 and rs1124 loci were compared among NRDS cases with varying degrees of disease severity. The study was approved by the Medical Ethics Committee of Shangqiu First People's Hospital (Ethics No. 2020-031).</p><p><strong>Results: </strong>The frequency of the variant allele (A) at the rs4715 locus was significantly higher in the NRDS group compared to the control group (32.14% vs. 24.11%, P = 0.001). The frequency of the variant genotype (AA + AC) was also higher in the NRDS group (47.02% vs. 39.29%, P = 0.043). The frequency of the variant allele (A) at the rs1124 locus was higher in the NRDS group compared to the control group (34.23% vs. 23.51%, P = 0.027), with a higher frequency of the variant genotype (AA + AG) in the NRDS group (49.40% vs. 39.29%, P = 0.019). No significant correlation was observed between the rs4715 polymorphism and the severity of NRDS (P > 0.05). Among NRDS children with grade III severity, the frequency of the variant allele (A) at the rs1124 locus was higher than in grade I and grade II children (47.62% vs. 29.22%, P = 0.020). The frequency of the variant genotype (AA + AG) was also higher in grade III children (64.28% vs. 43.84%, P = 0.040).</p><p><strong>Conclusion: </strong>SP-C gene polymorphisms are associated with the susceptibility to NRDS. Neonates carrying the AA genotype and the A allele at the rs1124 locus are at a higher risk of severe NRDS. These findings have provided further evidence for early screening, diagnosis, and treatment of NRDS.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1426-1431"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of a Chinese pedigree with female infertility due to WEE2 gene c.495del homozygous frameshifting variant induced fertilization disorder].","authors":"Jinwei Yang, Zhiqiang Wang, Yaqiong Guo, Bo Yan, Zhongjun Ding, Yali Ni","doi":"10.3760/cma.j.cn511374-20240702-00365","DOIUrl":"10.3760/cma.j.cn511374-20240702-00365","url":null,"abstract":"<p><strong>Objective: </strong>To explore the genetic basis for a patient with repeated fertilization failure during assisted reproductive therapy, and to identify the source and mode of mutation.</p><p><strong>Methods: </strong>A couple treated at the Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital in January 2024 for infertility with incomplete left tube obstruction was selected as the study subject. Relevant clinical data was collected. The couple was subjected to whole exome sequencing (WES), and the candidate variant was verified by Sanger sequencing of their family members and bioinformatic analysis.</p><p><strong>Results: </strong>WES has identified a homozygous c.495del frameshifting mutation of the WEE2 gene in the female partner, whilst no relevant variant was suspected in the male partner. The elder brother of the female partner was homozygous for the above variant, while her parents, maternal and paternal aunts, uncle, grandmother, and grandmother were heterozygous for it. Based on the guidelines from the American College of Medical Genetics and Genomics, above variant was rated to be pathogenic.</p><p><strong>Conclusion: </strong>The homozygous c.495del frameshifting mutation of the WEE2 gene probably underlay the oocyte fertilization disorder in this couple, which has conformed to an autosomal recessive inheritance.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 12","pages":"1478-1482"},"PeriodicalIF":0.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}