Whole-exome sequencing IDs genetic cause in quarter of cases

October 3, 2013
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.

Explore further: Mutation linked to congenital urinary tract defects

More information: Abstract
Full Text
Editorial

Related Stories

Mutation linked to congenital urinary tract defects

July 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

June 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 technologies ...

Genetic make-up of rare gastrointestinal tract tumour decoded

September 11, 2013

Gastrointestinal stromal tumours (GIST) are relatively rare tumours of the gastrointestinal tract that can occur both as a harmless incidental finding and as aggressive, malignant disease. Two key genetic mutations that can ...

Recommended for you

Regulatory RNA essential to DNA damage response

September 26, 2016

Stanford researchers have found that a tumor suppressor known as p53 is stabilized by a regulatory RNA molecule called DINO. The interaction helps a cell respond to DNA damage and may play a role in cancer development and ...

Multifaceted genetic impact of training

September 23, 2016

Endurance training changes the activity of thousands of genes and give rise to a multitude of altered DNA-copies, RNA, researchers from Karolinska Institutet report. The study, which also nuances the concept of muscle memory, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.