Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.

Abstract

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.

• Authors: Na Li, Chong Qiao, Yuan Lv, Tian Yang, Hao Liu, Wen-Qian Yu, Cai-Xia Liu
• Journal: World journal of clinical cases (World J Clin Cases) Vol. 7 Issue 21 Pg. 3655-3661 (Nov 06 2019) ISSN: 2307-8960 [Print] United States
• PMID: 31750350 (Publication Type: Case Reports)
• Copyright: ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.