Medical College of Georgia researchers have identified the culprit gene for a rare condition that turns smiles into grimaces and impedes bladder and bowel control.

The discovery provides new insight into urofacial syndrome as well as incontinence in general.

Dr. Jin-Xiong She, director of the MCG Center for Biotechnology and Genomic Medicine, said, "This paper really tells us and the scientific community is that this particular gene and its encoded proteins play a very important role in controlling facial and bladder muscle function. From this, we hope to develop studies that will benefit not only these patients but also those with the more general problem of incontinence or overactive bladder and constipation."

The study published in the American Journal of Human Genetics, has Dr. She, a Georgia Research Alliance Eminent Scholar in Genomic Medicine, as a corresponding author.

It has been reported that the study details identification of the gene Heparanase 2 as a cause of urofacial syndrome, a genetic condition disproportionately affecting populations with common ancestry.

To pass along a genetic disorder, a child must get two copies, one from each parent, of the mutated gene. Rare disorders become more common in populations where relatives marry and/or have children together.

Dr. Bobbilynn Hawkins-Lee, a urologist at MCG, director of urodynamics and female urology at the Charlie Norwood Veterans Affairs Medical Center and study co-author, said, the face, bladder and bowel all require tight control of muscle contraction. Patients with urofacial syndrome leak feces and urine, which can leak back into the kidneys and destroy them.

Lee further said, "You can pick these babies out in a nursery because their facial muscles are inverted. Older children typically give up trying to smile, opting for a more stoic look to help mask their condition." (With Inputs from Agencies)