Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report
| Autor: | Wenqian Yu, Na Li, Caixia Liu, Chong Qiao, Hao Liu, Yuan Lv, Tian Yang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
business.industry Fetal akinesia deformation sequence General Medicine Compound heterozygosity MUSK gene body regions 03 medical and health sciences 0302 clinical medicine Endocrinology 030220 oncology & carcinogenesis Internal medicine Mutation (genetic algorithm) Case report medicine 030211 gastroenterology & hepatology sense organs business Joint contractures |
| Zdroj: | World Journal of Clinical Cases |
| ISSN: | 2307-8960 |
| Popis: | BACKGROUND Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying feature. The etiology of FADS is heterogeneous and mostly still unknown. A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology. However, the recent advances of next-generation sequencing (NGS) can effectively provide a definitive molecular diagnosis. CASE SUMMARY A fetus presented after 24 wk and 6 d of gestation with absent fetal movements and multiple abnormal ultrasonographic signs. The mother had had a previous abortion due to a similarly affected fetus a year before. A clinical diagnosis of FADS was made. The parents refused cord blood examination and chose abortion. A molecular diagnosis of fetal muscle using NGS of genes found a compound heterozygous mutation in the MUSK gene: c.220C > T (chr9: 113449410 p.R74W) and c.421delC (chr9: 113457745 p.P141fs). CONCLUSION To our knowledge, this is the first report in China showing that a mutation in MUSK is associated with FADS. This supports previous finding that a lethal mutation of MUSK will cause FADS. A precise molecular diagnosis for genetic counseling and options for a prenatal diagnosis of FADS are very important, especially for recurrent FADS; this may also provide evidence for both prenatal and preimplantation genetic diagnoses. |
| Databáze: | OpenAIRE |
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