A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.

ABSTRACT:

Background

About 31 individuals with CLTC variants have been reported worldwide, and all reported individuals have motor and mental retardation. CLTC is known to lead to intellectual developmental disorder, autosomal dominant 56. Few studies are focusing on the prenatal stage of the disease.

Method

An ultrasound examination was performed to obtain the prenatal phenotype. Whole-exome sequencing was used to find the pathogenic variant. Multiple computational tools predicted the conservation and deleteriousness. Minigene assay and western blot were utilized to investigate the effect on splicing of mRNA and protein expression.

Result

Here we found a novel de novo variant of CLTC in a fetus. The fetus manifested bilateral choroid plexus cysts of the brain, hyperechogenic k

SUBMITTER: Cheng C 

PROVIDER: S-EPMC10729518 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature