Researchers have discovered the gene responsible for sponastrime dysplasia, a rare genetic skeletal system disease, Seoul National University Hospital (SNUH) said Friday.

From left, Professors Cho Tae-joon, Kim Yong-hwan and Lee Han-woong of Seoul National University Hospital

Sponastrime dysplasia is a rare autosomal recessive bone disorder which causes the patient to have short height as well as respiratory stenosis, joint, and vertebral deformity. The disease is so rare that it does not yet have a Korean translation.

Organized by Professor Kim Ok-hwa, an expert in the diagnosis of rare skeletal genetic diseases, 20 institutions from five countries -- Korea, Brazil, Finland, India, and Japan -- participated in the research.

Professors Cho Tae-joon at Seoul National University Children's Hospital, Kim Yong-hwan at Sookmyung Women's University, Lee Han-woong at Yonsei University, Cho Sung-yoon at Samsung Medical Center, and Choi Mu-rim at SNUH, participated in the research.

The team confirmed that 10 out of the 13 sponastrime dysplasia patients whom they analyzed had mutations in their tonsoku-like (TONSL) gene.

Although TONSL gene is one of the genes recently discovered by genome projects, researchers have not yet thoroughly studied the function of the gene. As of now, researchers believe that the TONSL gene is a protein involved in DNA replication and repair of damaged DNA.

The team has verified how the mutations can degrade the function of the TONSL gene.

“The precise definition of the disease is possible as we have identified the gene that causes this sporadic disease,” Professor Cho said. “The result is of great significance as it has opened up the possibility of genetic counseling such as prenatal diagnosis.”

Professor Kim also said, “By identifying that the disease is caused by TONSL gene mutation, we have confirmed that DNA replication and damage repair mechanism plays an important role in the skeletal system formation process.”

American Journal of Human Genetics published the results of the study.

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