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Whole-Genome Sequencing May Identify Causes of Disease

Study of family with Charcot-Marie-Tooth disease demonstrates potential of new technology

WEDNESDAY, March 10 (HealthDay News) -- Whole-genome sequencing has the potential to identify clinically relevant variants and provide important diagnostic information, according to a study published online March 10 in the New England Journal of Medicine.

James R. Lupski, M.D., of the Baylor College of Medicine in Houston, and colleagues used whole-genome sequencing to make a specific diagnosis in four siblings affected by Charcot-Marie-Tooth disease, and to produce almost 90 billion base pairs of genomic sequence in one of the affected siblings.

The researchers found two significant mutations in SH3TC2, the SH3 domain and tetratricopeptide repeats 2 gene, which cause autosomal Charcot-Marie-Tooth disease. They also found complete cosegregation of the mutations with the family's disease status, suggesting the mutations were the cause of Charcot-Marie-Tooth disease in the family.

"Our results suggest that haploinsufficiency of SH3TC2 confers predisposition to a mild polyneuropathy with particular susceptibility to the carpal tunnel syndrome," the authors write. "More generally, they demonstrate the diagnostic power of whole-genome sequencing in the context of genetically heterogeneous mendelian disease and inform efforts to decipher the genetic bases of complex traits."

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