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From: NIH news releases and news items [mailto:[log in to unmask]] On
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Sent: Monday, May 17, 2004 15:21
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Subject: NICHD FUNDED RESEARCHERS DISCOVER GENE FOR CORNELIA DE LANGE
SYND ROME DISCOVERY MAY LEAD TO PRENATAL TEST FOR DEBILITATING DISORDER


U.S. Department of Health and Human Services

NATIONAL INSTITUTES OF HEALTH

NIH News

National Institute of Child Health
and Human Development (NICHD)
http://www.nichd.nih.gov/

EMBARGOED FOR RELEASE
Sunday, May 16, 2004
1:00 p.m. ET

CONTACT:
Robert Bock or
Marianne Glass Duffy
301-496-5133


NICHD FUNDED RESEARCHERS DISCOVER GENE FOR CORNELIA DE LANGE SYNDROME
DISCOVERY MAY LEAD TO PRENATAL TEST FOR DEBILITATING DISORDER

A team of researchers has discovered a gene for Cornelia de Lange
Syndrome, a disorder consisting of mental retardation, heart defects and
a number of physical abnormalities. The researchers were funded by the
National Institute of Child Health and Human Development, one of the
National Institutes of Health.

The researchers expect the discovery to speed the development of a
prenatal genetic test for the syndrome. A similar test will also be
developed to diagnose Cornelia de Lange Syndrome in young children
suspected of having the disorder.

The study was published on May 16 in the online edition of "Nature
Genetics".

"The discovery of the gene for Cornelia de Lange Syndrome also offers
the chance to learn more about the disorder,
and perhaps to develop new treatments for it," said Duane Alexander,
M.D., Director of the NICHD.

The first author of the study was Ian Krantz, M.D., of the University of
Pennsylvania in Philadelphia and The Children's Hospital of
Philadelphia.

Named for the Dutch physician who first described it in 1933, Cornelia
de Lange Syndrome involves a complex of symptoms. These include mental
retardation, self-injurious behavior, impaired growth, heart defects,
hearing loss, and abnormalities of the fingers and hands. Individuals
with Cornelia de Lange Syndrome also have distinctive facial features,
such as thin eyebrows that meet in the middle of the forehead, long
eyelashes, thin, down-turned lips, and excessive body hair. According to
the study authors, Cornelia De Lange Syndrome occurs in one of every
10,000 individuals.

In a study involving 5 hospitals and 8 universities, the researchers
analyzed the genes of 12 families that each has more than one member
with Cornelia de Lange Syndrome. They discovered that the gene for the
disorder resides on the 5th chromosome. They named the gene, NIPBL,
which stands for "Nipped B-like." The gene is named after its
counterpart in fruit flies, "Nipped B." Fruit flies having the gene have
abnormal wings, which look like they have a small bite taken out of
them. The discovery of the Nipped B gene was funded in part by the
National Institute of General Medical Sciences, also at the NIH.

In both fruit flies and human beings, the gene appears to be involved in
the very early stages of embryonic development, Dr. Krantz said. NIPBL
contains the information needed to make a protein that helps to switch
on a number of other genes.

Other institutions taking part in the study were: The Geneva University
Hospital in Geneva, Switzerland; the University of Nevada School of
Medicine in Las Vegas; the University Medical Center in Hamilton,
Ontario; Michigan State University in East Lansing; the University of
Utah Health Sciences Center; the University of California in Irvine;
Nemours Children's Clinic in Wilmington, Delaware; the University of
Genoa, Italy; and Drexel University School of Medicine in Philadelphia.

The NICHD is part of the National Institutes of Health (NIH), the
biomedical research arm of the federal government. NIH is an agency of
the U.S. Department of Health and Human Services. The NICHD sponsors
research on development, before and after birth; maternal, child, and
family health; reproductive biology and population issues; and medical
rehabilitation. NICHD publications, as well as information about the
Institute, are available from the NICHD Web site,
<http://www.nichd.nih.gov>, or from the NICHD Information Resource
Center, 1-800-370-2943; e-mail
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This NIH News Release is available online at:
http://www.nih.gov/news/pr/may2004/nichd-16.htm
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