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Fall 2004 Table of Contents
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Cornelia de Lange Gene Identified

By Mel Dugosh, Parent, Hondo, Texas

Abstract: A parent describes a medical breakthrough announced at the 22nd National Conference of the Cornelia de Lange Syndrome Foundation held in Chicago this summer.

Keywords: Family, blind, deafblind, national conference, Cornelia de Lange Syndrome Foundation, medical breakthrough

Attendees at the 22nd National Conference of the Cornelia de Lange Syndrome Foundation held in Chicago in late June 2004 were astonished when Dr. Ian Krantz of the Children's Hospital of Philadelphia announced the identification of the gene on chromosome 5 that is the cause of Cornelia de Lange Syndrome(CdLS). His official findings in close collaboration with colleague Dr. Laird Jackson are that the "Cornelia de Lange Syndrome is caused by mutations in NIPBL, the human homolog of the Drosphila Nipped-B gene."

In the past the diagnosis of CdLS derived from assessing the number of tangible manifestations which might include, but were not limited to deaf/blindness, mental retardation, facial features, limb differences, small stature, and gastroentrological distress.

Christopher Dugosh, my son and a student at TSBVI, and our family provided one set of the original 150 blood samples available to Dr.Krantz for testing. It took more than a decade to obtain enough viable samples and raise the funds for the tidious research to begin the testing. At present NIPBL mutations have been found in about half of all the sampled children with CdLS. This research also discovered that the change of the NIPBL arose as the result of a new mutation in the single egg or sperm that went on to form those children. This knowledge is important to the vast majority of families with a child with CdLS because they will not have an increased risk for having future affected children. .

The newly identified NIPBL marker has resulted in a genetic test that is now available to confirm the diagnosis of CdLS. Unfortunately is believed that over 10,000 individuals in the United States have CdLS but have been living without a diagnosis. Subsequently the CdLS Foundation located in Avon, Connecticut has launched an all out "Find One Child" campaign to assist in the finding these undiagnosed individuals who may be without benefits of appropriate services.

This huge discovery for CdLS combined with many more years of diligent research might someday lead to implications for treatments of individuals currently living with CdLS. The current crucial need for the advancement of stem cell research could eventually provide the means potentially for the gene to be altered close to conception, prior to birth.

More information about CdLS can be accessed at www.CdLSusa.org. More specifics on the critical "Find One Child" campaign can be obtained by emailing awareness@cdlsusa.org or calling (800)753-2357.

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Last Revision: September 1, 2010