Research Highlight

Novel genetic mutation linked to brittle bone disease

doi:10.1038/nindia.2018.28 Published online 12 March 2018

Researchers have identified a novel mutation in a specific gene that encodes a signalling protein and influences bone development by regulating the activities of certain genes in bone cells1.

Such genetic mutation, discovered in a newborn with multiple bone fractures, could potentially be used to make an early diagnosis of brittle bone disease.

Brittle bone disease, also known as osteoporosis, affects children as well as adults. This disease gradually decreases bone density, making victims vulnerable to fractures. Recent studies had linked a number of genes to this bone disorder.

Sequencing the genes of a four-month-old baby with bone fractures, scientists from the Postgraduate Institute of Medical Education and Research, Chandigarh, and Dhitiomics Technologies Private Limited, Bangalore, both in India, homed in on a new genetic mutation in a gene known as WNT1.

Since the WNT1 gene plays vital roles in bone formation, mutations in this gene severely disrupt the growth of bone cells, resulting in short stature, decreased bone density and recurrent fractures. The child also showed drooping eyelids and lost neurons in the brain.

Putting the child on zoledronate, a drug used to treat bone diseases, prevented further bone fractures.The study found that the child’s mother had porous and weak bone and his father also had a history of backache.

The results will open up new avenues of genetic screening, enabling clinicians to counsel parents about this disease and its potential therapies before the birth of such babies. 


1. Panigrahi, I. et al. Novel mutation in a family with WNT1-related osteoporosis. Eur. J. Med. Genet. (2018) doi: 10.1016/j.ejmg.2018.01.017