AUTHOR=Wang Ye , Zhu Caixia , Du Liu , Li Qiaoer , Lin Mei-Fang , FĂ©rec Claude , Cooper David N. , Chen Jian-Min , Zhou Yi TITLE=Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses JOURNAL=Frontiers in Genetics VOLUME=10 YEAR=2019 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2019.00835 DOI=10.3389/fgene.2019.00835 ISSN=1664-8021 ABSTRACT=
Polyhydramnios is sometimes associated with genetic defects. However, establishing an accurate diagnosis and pinpointing the precise genetic cause of polyhydramnios in any given case represents a major challenge because it is known to occur in association with over 200 different conditions. Whole exome sequencing (WES) is now a routine part of the clinical workup, particularly with diseases characterized by atypical manifestations and significant genetic heterogeneity. Here we describe the identification, by means of WES, of novel compound heterozygous truncating variants in the