Turkish scientist discovers rare genetic disease targeting skeletal system

By Sezgin Pancar

ADANA, Turkiye (AA) – A Turkish scientist has discovered a rare genetic disease targeting the skeletal system, a statement by his university revealed on Wednesday.

According to the statement by Cukurova University in the southern Adana province, Dr. Osman Demirhan of the Faculty of Medicine discovered that a new homozygous mutation in the gene caused damage in the skeletal system.

The research revealed that the genetic disease led to sexual organ disorders.

"The incidence of rare skeletal diseases has been reported to be approximately one in 5,000 cases. However, it is estimated that the incidence of skeletal diseases in our country, where kin marriage is high, is much higher than that reported in the literature," Demirhan was quoted as saying in the statement.

The study was based on a 16-year-old girl from a family with very common kin marriage, the scientist said.

The young girl had "serious arm and leg deformity consisting of folding of her fingers, lack of development of the fibula bone, severe finger contractions, joint loss in the hands, and fusion of the wrist and ankle bones," he explained.

The study also found that the girl's "ovaries did not develop and she had an underdeveloped uterus. Endocrinological findings revealed that her ovaries did not produce enough hormones or reproductive cells," Demirhan added.

The physician also said the patient's parents, her uncle's children and two of her four siblings are carriers of the defective genes.

"We are proud to have discovered an important disease as part of the rare diseases in the field of genetics, and introduced it to medical science and literature as 'Demirhan Syndrome'."