Researchers identify gene for a primary form of sudden infant death sydr...( PHOENIX July 19 2004 — Scientist...)

PHOENIX, July 19, 2004 — Scientists at the Translational Genomics Research Institute (TGen), Phoenix, Arizona, and the Clinic for Special Children, Strasburg, Pennsylvania, have found the genetic basis for one form of sudden infant death syndrome (SIDS). The researchers have named the newly described form as sudden infant death with dysgenesis of testes, or SIDDT. The finding, released this week on-line by the journal Proceeding of the National Academy of Sciences could provide new insight into the inexplicable, sudden deaths of some 3,000 infants a year in the US.

SIDS has long been a catchall term for infants that die unexpectedly of unknown causes before their first birthday. By discovering a gene linked to some of these deaths, a team of researchers led by Dr. Dietrich Stephan, director of neurogenomics at TGen, and the paper's senior author, has begun to expose the distinct genetic causes behind these deaths.

"This is one of the first genetic sub-classifications of SIDS," Stephan said. "And it's going to be helpful in offering parents answers for sudden infant deaths, recognizing predisposition early, and hopefully saving a number of these babies."

The researchers first identified patients with SIDDT in a small Old Order Amish community in central Pennsylvania. Over two generations, nine families from this community had lost twenty-one infants to this sudden death syndrome. This familial clustering suggested a genetic basis for the syndrome. All infants with SIDDT died before 12 months of age of abrupt cardiac and respiratory arrest. While many of these infants underwent testing at major medical centers, no abnormalities were found. Males with SIDDT may also have underdeveloped testes. Females appear to be normal and have normal female hormones in blood and urine. Despite these differences, male and female infants with SIDDT died suddenly at the same age.

The researchers analyzed the DNA from four of the
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Contact: Galen Perry
gperry@tgen.org
602-343-8423
The Translational Genomics Research Institute
19-Jul-2004

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