A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.

Sheng YiXianglian TangFei ChenLinlin WangJunjie ChenZuojian YangMinpan HuangShang YiLimei HuangQi YangShuihua YangPingshan PanZailong QinJingsi Luo

Published in: Molecular genetics & genomic medicine (2024)

This study is the first prenatal case of MAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of the MAST1 gene.

Keyphrases

genome wide
copy number
pregnant women
genome wide identification
dna methylation
case report
gene expression
drug induced