Whole-exome sequencing IDs genetic cause in quarter of cases

Whole-exome sequencing IDs genetic cause in quarter of cases

(HealthDay)—For patients with suspected genetic disorders, whole-exome sequencing identifies the underlying genetic defect in 25 percent of cases, according to a study published online Oct. 2 in the New England Journal of Medicine.

Yaping Yang, Ph.D., from the Baylor College of Medicine in Houston, and colleagues developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing for 250 probands with suspected genetic disorders. Children with neurologic phenotypes accounted for about 80 percent of the .

The researchers identified 86 mutated alleles, which were likely to be causative in 62 patients (25 percent molecular diagnostic rate). More than half of these patients (33) had autosomal dominant disease, 16 had , and nine had X-linked . Four probands received two non-overlapping molecular diagnoses, which were distinct from the clinical diagnoses made based on history and physical examination. Eighty-three and 40 percent of the autosomal dominant and X-linked mutant alleles, respectively, occurred de novo. Thirty-nine patients had rare genetic disorders that were seen only once in the study, and 23 had recurrent clinical phenotypes.

"Whole-exome sequencing identified the underlying genetic defect in 25 percent of consecutive patients referred for evaluation of a possible genetic condition," the authors write.

More information: Abstract
Full Text
Editorial

add to favorites email to friend print save as pdf

Related Stories

Mutation linked to congenital urinary tract defects

Jul 17, 2013

Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most ...

Whole genome or exome sequencing: An individual insight

Jun 27, 2013

Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing techno ...

Recommended for you

Throwing a loop to silence gene expression

4 hours ago

All human cells contain essentially the same DNA sequence – their genetic information. How is it possible that shapes and functions of cells in the different parts of the body are so different? While every cell's DNA contains ...

A nucleotide change could initiate fragile X syndrome

Sep 01, 2014

Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears ...

Gene clues to glaucoma risk

Aug 31, 2014

Scientists on Sunday said they had identified six genetic variants linked to glaucoma, a discovery that should help earlier diagnosis and better treatment for this often-debilitating eye disease.

User comments