A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.

In this report, we present the first case of a human fetus with a homozygous loss of function variant in SHROOM3. The fetus presents with anencephaly and cleft lip and palate, similar to previously described Shroom3 mouse mutants and is suggestive of a novel monogenic cause of NTD. Our case provides clarification on the contribution of SHROOM3 to human development after decades of model organism research.
PMID: 32621286 [PubMed - as supplied by publisher]

Source: Clinical Genetics - July 2, 2020 Category: Genetics & Stem Cells Authors: Deshwar AR, Martin N, Shannon P, Chitayat D Tags: Clin Genet Source Type: research