The genetic basis of familial and non-familial congenital scoliosis and abnormal vertebral segmentation

Outcome:

 

The project aimed to use the most up-to-date molecular genetic technology, called next generation sequencing, to look for genetic causes of familial congenital scoliosis.

Congenital scoliosis is that which is present at birth, or which develops very early in life. It is different from the better known idiopathic scoliosis that appears most commonly during adolescence. The causes of congenital scoliosis are very diverse and often unknown, though frequently some of the vertebrae do not form normally and the distorted shape contributes to spinal curvature. In many cases the problem may not be genetic, but occasionally the problem clearly runs in the family and is hereditary. Sometimes these early onset forms of scoliosis are progressive and require major surgery in childhood.

The study made a breakthrough by identifying variants in the gene TBX6. This has extended the range of genetic mutations and variants that are now associated with congenital scoliosis. The work is due for publication and Dr Turnpenny and his team have presented their work at 3 major spinal conferences. The findings of this research will benefit affected families as well as providing more insights into the formation and development of the spine.

 

Alternate title: The genetic basis of congenital scoliosis 

Summary:

Scoliosis that is present at birth, or which develops very early in life, is different from the better known idiopathic scoliosis that becomes apparent in adolescent life.  The causes are very diverse and often unknown, though frequently some of the vertebrae do not form normally and the distorted shape contributes to spinal curvature. In many cases the problem may not have a genetic basis, but occasionally the problem clearly runs in the family and is hereditary.  Sometimes these early onset forms of scoliosis are progressive and require major surgery in childhood.

This project aims to use the most up-to-date molecular genetic technology, called next generation sequencing, to look for genetic causes of familial congenital scoliosis. The research group have identified a number of suitable families and their DNA will be analysed in an attempt to identify variants, and hence new genes, that are crucial to normal spine formation. If successful the findings will benefit the affected families but also provide more insights into the formation and development of the spine. This may involve collaborating with a research group in Australia who are skilled in being able to study the cell biology of the genes and their mutations in animal models.

 

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