In a discovery that could help boost understanding of a rare type of dwarfism, researchers announced that they have found a genetic culprit for the condition.
But in addition to increasing knowledge of this condition, the researchers' conclusions could also fuel the continuing debate over the origins of a mysterious group of hobbits that walked the earth tens of thousands of years ago.
In the study, released today by the journal Science, an international team of researchers led by Anita Rauch of the Institute of Human Genetics in Erlangen, Germany, examined a number of individuals with a condition known as microcephalic osteodysplastic primordial dwarfism type II, or MOPD II for short.
What they found was that a key mutation in chromosome 21 likely led to the condition, a finding that represents a first-of-its-kind genetic explanation for this type of dwarfism.
Practical Applications
"Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence," the researchers noted in their article.
Genetic experts not affiliated with the work said the finding offers intriguing hints to the genetic puzzle behind this form of dwarfism.
The study provides scientists a mechanism for the development of this condition, said Anne Bowcock, professor of genetics at the Washington University School of Medicine in St. Louis. "I find it intriguing that alterations in this pathway can result in the characteristics of this disease."
But Bowcock added that it's unlikely that the discovery of this genetic variation will have a practical application in terms of screening and genetic counseling.
"Regarding screening for and detecting genetic abnormalities within this gene in the womb, this is a very rare syndrome, and screening for mutations within this gene in the womb is not practical at this stage," she said. ...
| • | Dwarf Gene Discovery: Explanation for Hobbit Species?
Gene Mutation Linked to Certain Type of Dwarfism; Researchers Suggest Link to Hobbits ABC News, Thursday, Jan. 3, 2008 Byline: Dan Childs, ABC News Medical Unit |
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