Oklahoma researches discover genetic cause of rare condition.
The condition is so rare that only a handful of families and individuals worldwide suffer from it.
It is called Stormorken’s syndrome, and it is caused by a mutation in a single gene.
The work started one year ago when a 10 year old Oklahoma girl named Isabel, was referred to an OU Children’s Physician’s medical geneticist, Klaas Wierenga, M.D.
Isabel’s grandmother, Linda Hammond says, “when she was just a baby, she would bleed spontaneously from the mouth.”
“She didn’t act sick, but she would bruise so easily.”
“She is a beautiful little baby, but we didn’t understand what was going on.”
Until that time, only six reported families with the syndrome.
A team was assembled including physicians from Duke University and extensive testing was performed to isolate and identify that happens in the gene that is generally inherited from one parent.
In Isabel’s case, the mutation spontaneously happened at conception, because neither of her parents carried the genetic markers for the syndrome.