QRICH1 mutations cause a chondrodysplasia with developmental delay
A recent article published in Clinical Genetics reported two patients with abnormal growth plate morphology on bone age radiograph, developmental delay, dysmorphic facies and short stature in one of the two. The phenotype was associated with de novo, heterozygous nonsense mutations in QRICH1, a gene whose function is unknown. Previously, a paper identified QRICH1 mutations in three patients with developmental delay, one of whom had short stature. Findings of the researchers indicated that QRICH1 mutations caused not only neurodevelopmental delay but also chondrodysplasia characterised by diminished linear growth and abnormal growth plate morphology due to impaired growth plate chondrocyte hypertrophic differentiation.
Clin Genet. 2019 Jan;95(1):160-164