Researchers At Signature Genomic Laboratories Characterize Previously Unrecognized Genetic Disorder

Main Category: Genetics
Article Date: 09 Oct 2008 - 8:00 PDT

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Researchers at Signature Genomic Laboratories recently reported two individuals with microscopic losses of DNA from the long arm of chromosome 16 and suggested this deletion represents a previously unappreciated syndrome.

In the study, published in the journal Clinical Genetics, the two individuals with deletions of the long arm of chromosome 16 were identified among more than 22,000 patients with unexplained mental retardation and birth defects referred to Signature for testing. Both patients' deletions encompassed the gene SALL1, mutations of which are hypothesized to cause Townes-Brocks syndrome, a rare autosomal-dominant condition characterized by anal, renal, limb, and ear malformations. However, neither individual had clinical features suggestive of Townes-Brocks syndrome, and their common clinical features, as well as those of individuals in another report, suggested deletions of this segment of chromosome 16 represented a distinct, emerging syndrome.

"Although further studies are required to determine what role these deletions play in the patients' clinical features, microarray analysis was essential for identifying this novel chromosome abnormality. Their highly variable clinical features-and the rarity of similar patients reported in the literature-would have prevented their identification without this technology," said Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and lead author of the study. "These cases are an excellent example of how microarray technology can provide answers that traditional methods cannot."

About Signature Genomic Laboratories

Signature Genomic Laboratories, founded in 2003, was the first laboratory to provide microarray-based cytogenetic diagnostics with its proprietary SignatureChip® and is the leader in providing microarray-based chromosome analysis. Signature's worldwide client base includes clinical geneticists, neurologists, pediatricians, neonatologists, obstetricians, and the research community. Signature is CAP accredited, CLIA certified, and has clinical licenses from California, Rhode Island and Florida. Additional information about Signature Genomic Laboratories is available at http://www.signaturegenomics.com.

Signature Genomic Laboratories