A Turkish doctor has recently discovered a rare genetic disease that targets the skeletal system and may shed light on the negative impacts of consanguineous marriages on genetic structure.
According to the research conducted by Dr. Osman Demirhan of Çukurova University's Faculty of Medicine, the newly discovered homozygous mutation in the gene caused damage to the skeletal system.
Demirhan syndrome, named after the doctor, also leads to disorders relating to reproductive organs.
"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 consanguineous marriages are common, is much higher than what is reported in the literature," Demirhan said in a written statement. The study was based on a 16-year-old girl belonging to a family in which consanguineous marriages are common.
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.'"
