دورية أكاديمية
Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.
| العنوان: | Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene. |
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| المؤلفون: | Zhang S; Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China.; Department of Medical Ultrasound Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, People's Republic of China., Wang J; Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China., Sun L; Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China., Han J; Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China., Xiong X; Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China., Xiao D; Center of Medical Genetics, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, People's Republic of China., Wu Q; Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, People's Republic of China. qingqingwu@ccmu.edu.cn. |
| المصدر: | Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2024 Aug; Vol. 310 (2), pp. 695-704. Date of Electronic Publication: 2024 Jun 09. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8710213 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0711 (Electronic) Linking ISSN: 09320067 NLM ISO Abbreviation: Arch Gynecol Obstet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Berlin : Springer Verlag Original Publication: München : Springer International, c1987- |
| مواضيع طبية MeSH: | Exome Sequencing* , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/diagnosis , Axonemal Dyneins*/genetics , Mutation*, Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods ; Heterozygote ; Situs Inversus/genetics ; Situs Inversus/diagnosis ; Situs Inversus/diagnostic imaging ; Polymorphism, Single Nucleotide ; Adult ; Heterotaxy Syndrome/genetics ; Heterotaxy Syndrome/diagnostic imaging |
| مستخلص: | Background: Left-right laterality disorders are a heterogeneous group of disorders caused by an altered position or orientation of the thoracic and intra-abdominal organs and vasculature across the left-right axis. They mainly include situs inversus and heterotaxy. Those disorders are complicated by cardiovascular abnormalities significantly more frequently than situs solitus. Methods: In this study, 16 patients with a fetal diagnosis of laterality disorder with congenital heart defects (CHD) were evaluated with a single nucleotide polymorphism array (SNP-arry) combined with whole-exome sequencing (WES). Results: Although the diagnostic rate of copy number variations was 0 and the diagnostic rate of WES was 6.3% (1/16), the likely pathogenic gene DNAH11 and the candidate gene OFD1 were ultimately identified. In addition, novel compound heterozygous mutations in the DNAH11 gene and novel hemizygous variants in the OFD1 gene were found. Among the combined CHD, a single atrium/single ventricle had the highest incidence (50%, 8/16), followed by atrioventricular septal defects (37.5%, 6/16). Notably, two rare cases of common pulmonary vein atresia (CPVA) were also found on autopsy. Conclusion: This study identified the types of CHD with a high incidence in patients with laterality disorders. It is clear that WES is an effective tool for diagnosing laterality disorders and can play an important role in future research. (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.) |
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| معلومات مُعتمدة: | No.2016YFC1000104 National Key Research and Development Program of China; 81971619 National Natural Science Foundation of China |
| فهرسة مساهمة: | Keywords: DNAH11; Congenital heart defects; Laterality disorders; Prenatal diagnosis; Whole-exome sequencing |
| المشرفين على المادة: | EC 3.6.4.2 (Axonemal Dyneins) EC 3.6.4.2 (DNAH11 protein, human) |
| تواريخ الأحداث: | Date Created: 20240609 Date Completed: 20240718 Latest Revision: 20240805 |
| رمز التحديث: | 20240806 |
| DOI: | 10.1007/s00404-024-07574-3 |
| PMID: | 38852111 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1432-0711 |
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| DOI: | 10.1007/s00404-024-07574-3 |