Article
A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.
Prenatal diagnosis - 1 Dec 2023
Willison Clare, Ramachandran Vijaya, Chandler Natalie Jane, Hillman Sara, Ashraf Tazeen
Abstract excerpt
Trio exome sequencing was performed on a fetus with bilateral mesomelia of the lower limbs with significant angulation of the tibial bones, micrognathia and hypertelorism detected on ultrasound scan at 19 + 0 weeks gestation. The couple is consanguineous. A homozygous pathogenic frameshift variant in the SMOC1 gene (c.339_340del p.(Phe114Cysfs*40)) was detected and both parents were shown to be heterozygous....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.