Open AccessCompound heterozygous mutation ofMUSKcausing fetal akinesia deformation sequence syndrome: A case report
Author(s) -
Na Li,
Chong Qiao,
Liang Yuan,
Tian Yang,
Hao Líu,
Wenqian Yu,
Caixia Liu
Publication year - 2019
Publication title -
world journal of clinical cases
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v7.i21.3655
Subject(s) - medicine , fetus , prenatal diagnosis , abortion , mutation , compound heterozygosity , etiology , genetic counseling , pregnancy , obstetrics , bioinformatics , gene , genetics , pathology , biology
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.