Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia

We report two affected brothers, born to orthodox Jewish parents, in whom we found a novel homozygous missense variant c.4910G>A; p.(Cys1637Tyr) in LRP4 situated in an EGF-like domain between the fourth beta-propeller and transmembrane domains. Both brothers have had recurrent ketotic hypoglycaemia which has not been associated previously. We present 3D computed tomographic imaging illustrating the limb abnormalities in detail.

Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research