MIDDLEFIELD, Ohio — Researchers at DDC Clinic for Special Needs Children have identified a new disease, one never previously described in medical literature, and also discovered the gene associated with the disease.
The study will appear in the online edition of the journal Proceedings of the National Academy of Sciences.
Heng Wang, a physician scientist at DDC Clinic, identified the new disease five years ago in patients from the Old Order Amish community in northeast Ohio, the fourth largest Amish settlement in the U.S.
TMCO1
The disease is characterized by unusual facial appearances, bone abnormalities and mental retardation. Once the disorder was identified, human genome mapping technology was used to discover that the gene TMCO1 was responsible for this novel condition.
This is the first report of TMCO1 sequence variants being associated with a genetic disorder in humans. Since this disease had never been previously described, the research team gave it the name TMCO1 defect syndrome.
“The clinic’s unique position as the primary care facility for the patients has allowed us to continually observe them and collect essential information for the disorder while providing medical services,” said Wang. “We anticipate that this work and future translational research of this condition will enhance our cost-effective medical home for these patients. In addition, this work will provide an opportunity for early diagnosis through genetic counseling for the high risk families and newborn screening.”
Important contribution
The study is an important contribution to the body of knowledge about the TMCO1 gene and opens the door to a new field of study about the role of this gene and its function.
Wang is senior author, and Baozhong Xin, a research scientist of DDC Clinic, is lead author on the study. Researchers from The Clinic for Special Children of Pennsylvania and Cleveland State University also contributed to the study.
The identification of the disease is welcome news to the local community.
The study was supported in part by The Elisabeth Severance Prentiss Foundation, The Reinberger Foundation and the Leonard Krieger Fund of the Cleveland Foundation.
More information
For more information on DDC Clinic call 440-632-1668 or visit the Web site at www.ddcclinic.org.
