Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

This article discusses a case study of a girl with skeletal dysplasia, a condition characterized by abnormal bone development. The girl presented with poor height and weight gain, as well as various physical abnormalities such as macrocephaly, depressed nasal bridge, and short limbs. Genetic analysis revealed a novel mutation in the PRKG2 gene, which is associated with a rare form of acromesomelic dysplasia. The study highlights the importance of animal models in identifying disease genes and suggests that certain MAPK inhibitors may be suitable for treating skeletal dysplasia. [Extracted from the article]