Research

KFS Research Program

Ingham Institute of Applied Medical Research

Klippel-Feil syndrome (KFS) is a complex developmental disorder affecting the integrity and flexibility of the spinal column. The boney fusion of 2 adjacent vertebrae within the cervical spine is referred to as Klippel-Feil anomaly. Over the years Klippel-Feil anomaly has been found associated with additional vertebral fusions and/or abnormal development in one or more other systems (KFS). Klippel-Feil anomaly is found in up to 1 in every 200 individuals while the frequency of KFS is much lower. The developmental abnormalities associated with KFS to varying degrees include abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida occulta, raised scapula (Sprengel’s deformity), absent rib(s) and other rib defects including cervical ribs, other skeletal abnormalities including skeletal malformations of the ear, nose, mouth and larynx including hearing impairment and cleft palate, malformations of the head and facial (craniofacial) area; anomalies of the urinary tract and/or kidney including absent or horse-shoe kidney; or structural abnormalities of the heart (congenital heart defects), mirror movements, webbing of the digits and digital hypoplasia. In some cases there may be progressive osteoarthritis. Neurological complications may result due to associated spinal cord injury. In some cases KFS is genetically inherited.

 

Research Focus:

Identify the genetic basis of KFS

 

Research Aims:

* Education

* KFS population and stratification

* KFS Gene Discovery Program

* Develop genetic tests for KFS

* Understand the molecular basis of KFS abnormalities

* Molecular modelling of cellular deficiencies for improved therapy of osteoarthritis

 

Progress:

To date we have had success linking KFS genetics with skeletal development, cartilage and bone formation, joint maintenance and progressive osteoarthritis.

 

Investigators

Head Scientist: Associate Professor Raymond A. Clarke

 

Recent Publications:

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human Mutation 2008, 29 (8), 1017-1027.

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