Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
Objective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM. Method: A pregnant woman with recurrent fetal hydr...
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| Format: | Article |
| Language: | English |
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IMR Press
2020-12-01
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| Series: | Clinical and Experimental Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096 |
| _version_ | 1818552849195335680 |
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| author | Q.C. Wu L. Sun Y.S. Xu X.M. Yang L.K. Zheng |
| author_facet | Q.C. Wu L. Sun Y.S. Xu X.M. Yang L.K. Zheng |
| author_sort | Q.C. Wu |
| collection | DOAJ |
| description | Objective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM. Method: A pregnant woman with recurrent fetal hydrops and polyhydramnios was recommended to undergo WES before termination of pregnancy in order to find the etiology of these issues. After delivery, we obtained umbilical-cord blood and parental peripheral blood samples for WES. Fetal muscle was subjected to modified Gomori technique (MGT) and hematoxylin phosphotungstate (PTAH) staining for light microscope detection. Results: WES revealed two compound heterozygous mutations to fetal Kelch-like 40 (KLHL40), and pedigree-based Sanger sequencing showed that c.602G > A (p.Trp201*) was inherited from the mother and c.1516A > C (p.Thr506Pro) from the father. MGT and PTAH staining highlighted numerous nemaline rods under the light microscope. Conclusion: Fetal NM is a lethal genetic muscle disorder that is one etiology of fetal akinesia deformation sequence (FADS). Pathological and genetic testing are the current diagnostic methods for NM, but WES is a promising method for prenatal diagnosis of this disorder. |
| first_indexed | 2024-12-12T09:18:27Z |
| format | Article |
| id | doaj.art-e777f0cd5c1343828d371f955fe23a59 |
| institution | Directory Open Access Journal |
| issn | 0390-6663 |
| language | English |
| last_indexed | 2024-12-12T09:18:27Z |
| publishDate | 2020-12-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Clinical and Experimental Obstetrics & Gynecology |
| spelling | doaj.art-e777f0cd5c1343828d371f955fe23a592022-12-22T00:29:18ZengIMR PressClinical and Experimental Obstetrics & Gynecology0390-66632020-12-0147691591910.31083/j.ceog.2020.06.20960390-6663-47-6-915Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literatureQ.C. Wu0L. Sun1Y.S. Xu2X.M. Yang3L.K. Zheng4Center of Prenatal Diagnosis, Women and Children’s Hospital Affiliated to Xiamen University, Xiamen, Fujian, P.R. ChinaCenter of Prenatal Diagnosis, Women and Children’s Hospital Affiliated to Xiamen University, Xiamen, Fujian, P.R. ChinaCenter of Prenatal Diagnosis, Women and Children’s Hospital Affiliated to Xiamen University, Xiamen, Fujian, P.R. ChinaCenter of Prenatal Diagnosis, Women and Children’s Hospital Affiliated to Xiamen University, Xiamen, Fujian, P.R. ChinaCenter of Prenatal Diagnosis, Women and Children’s Hospital Affiliated to Xiamen University, Xiamen, Fujian, P.R. ChinaObjective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM. Method: A pregnant woman with recurrent fetal hydrops and polyhydramnios was recommended to undergo WES before termination of pregnancy in order to find the etiology of these issues. After delivery, we obtained umbilical-cord blood and parental peripheral blood samples for WES. Fetal muscle was subjected to modified Gomori technique (MGT) and hematoxylin phosphotungstate (PTAH) staining for light microscope detection. Results: WES revealed two compound heterozygous mutations to fetal Kelch-like 40 (KLHL40), and pedigree-based Sanger sequencing showed that c.602G > A (p.Trp201*) was inherited from the mother and c.1516A > C (p.Thr506Pro) from the father. MGT and PTAH staining highlighted numerous nemaline rods under the light microscope. Conclusion: Fetal NM is a lethal genetic muscle disorder that is one etiology of fetal akinesia deformation sequence (FADS). Pathological and genetic testing are the current diagnostic methods for NM, but WES is a promising method for prenatal diagnosis of this disorder.https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096nemaline myopathyfetal akinesiagenepathologywhole-exome sequencing |
| spellingShingle | Q.C. Wu L. Sun Y.S. Xu X.M. Yang L.K. Zheng Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature Clinical and Experimental Obstetrics & Gynecology nemaline myopathy fetal akinesia gene pathology whole-exome sequencing |
| title | Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature |
| title_full | Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature |
| title_fullStr | Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature |
| title_full_unstemmed | Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature |
| title_short | Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature |
| title_sort | diagnosis of fetal nemaline myopathy by whole exome sequencing case report and review of literature |
| topic | nemaline myopathy fetal akinesia gene pathology whole-exome sequencing |
| url | https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096 |
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