Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.

ABSTRACT:

Objective

We presented a non-consanguineous healthy Chinese couple with five pregnancies, three early miscarriages, the fetus II-2 and II-5 with similar abnormal phenotypes of fetal hydrops, scoliosis, fetal akinesia and polyhydramnios. This study aimed to uncover the molecular etiology of this family with a history of multiple adverse pregnancies.

Materials and methods

DNA extracted from the fifth fetal umbilical cord and parents' peripheral blood were subjected to SNP-array and whole exome sequencing. The result was verified by Sanger sequencing. Functional characterization of the c.2682G > C (p.Ile860_Pro894del) variant was completed by minigene splicing assay.

Results

Trio whole-exome sequencing has identified compound heterozygous variants in RYR1 (c.2682G > C; p

SUBMITTER: Zhao Q 

PROVIDER: S-EPMC9490926 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature