|By Karen Saltos | 2 years ago|
An 11-year-old girl from the Czech Republic has genes that came almost exclusively from her father. Only roughly 25 people in the world reportedly have this genetic syndrome.
All of the people with the condition are female. The Czech girl appears to be the first person to have inherited it without developing cancer.
“Ten to fifteen years ago, we didn’t think this condition was compatible for life,” said clinical geneticist Jennifer Kalish of the Children’s Hospital of Philadelphia. Kalish heads a lab that investigates ways to help children with imprinted gene disorders.
Although uncommon, more of these cases have become known due to improved genetic testing around the world. Researchers uncovered the Czech case because the parents were attempting to understand why she was deaf.
When she was 9-years-old, a genetic test revealed that she had two exact copies of a rare gene. Scientists initially thought it was bad luck.
They discovered the mother did not carry the gene. This meant the girl had inherited two copies of her father’s gene.
Proximate testing indicated that it was not just that one gene. She had doubled up on her father’s genes in essentially all of her chromosomes in most of her cells.
Now the girl does bear a telltale sign of the syndrome: one leg longer and thicker than the other one. The bigger leg simply got more of the dad-dad genes.
Maybe the cause of her deafness was her overabundance of dad-dad genes. It remains a mystery.