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Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (6): 915-919    DOI: 10.31083/j.ceog.2020.06.2096
Original Research Previous articles | Next articles
Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
Q.C. Wu1, *(), L. Sun1, Y.S. Xu1, X.M. Yang1, L.K. Zheng1
1Center of Prenatal Diagnosis, Women and Children's Hospital Affiliated to Xiamen University, Xiamen, Fujian, P.R. China
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Abstract  
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.
Key words:  Nemaline myopathy      Fetal akinesia      Gene      Pathology      Whole-exome sequencing     
Submitted:  27 March 2020      Accepted:  09 June 2020      Published:  15 December 2020     
Fund: 
3502Z20174018/The Science and Technology Project of Xiamen, Fujian, P.R. China
*Corresponding Author(s):  QICHANG WU     E-mail:  qichang_wu@163.com

Cite this article: 

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, 2020, 47(6): 915-919.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog.2020.06.2096     OR     https://ceog.imrpress.com/EN/Y2020/V47/I6/915

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