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New Genetic Screen May Find Underlying Autism Causes

MLPA found new genetic changes that appear likely to play role in autism spectrum disorder

MONDAY, Oct. 20 (HealthDay News) -- Multiplex ligation-dependent probe amplification (MLPA) may provide an efficient, inexpensive method of detecting chromosomal abnormalities associated with autism spectrum disorder (ASD) for genetic counseling purposes, according to research published Oct. 16 in BMC Medical Genomics.

Guiqing Cai, M.D., Ph.D., of the Mount Sinai School of Medicine in New York City, and colleagues analyzed data from 279 subjects with ASD who were screened with MLPA for deletions associated with cognitive impairment.

The researchers found duplications in 15q11-q13 and 22q11, including de novo small duplications that had not been previously characterized, that had likely contributed to ASD. In addition, 6 percent to 7 percent of cases showed a partial duplication in the ASMT gene, which was seen in only 2 percent of controls; this may contribute to ASD risk or its associated traits.

"Our study showed that MLPA can be a useful, inexpensive tool to evaluate clinically significant chromosomal microdeletions and microduplications in ASD and associated disorders. It is likely that with a targeted panel of MLPA probes, clinical genetic diagnoses can now be made in over 10 percent of ASD cases. MLPA is considerably less expensive when compared to fluorescence in situ hybridization and to array comparative genomic hybridization-based method; and it can be efficient even when compared to quantitative polymerase chain reaction," the authors write.

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