New Genetic Variants Identified for Bloom Syndrome
By LabMedica International staff writers Posted on 24 Jun 2015 |
Image: The face of a patient with Bloom syndrome or congenital telangiectatic erythema, a rare autosomal recessive disorder (Photo courtesy of Dr. Amira M. Elbendary).
For many diseases, testing is limited to detecting only the most common variants that are associated with a particular ethnicity, such as Ashkenazi Jews, who are known to have genes that make them susceptible to a variety of diseases.
Among those disease affecting Ashkenazi Jews is the rare condition Bloom syndrome, which causes varying degrees of immunodeficiency as well as sun sensitivity, telangiectatic erythema of the face, and stunted growth.
Scientists at the molecular information company Good Start Genetics, Inc. (Cambridge, MA, USA) conducted an extensive literature review and examining sequence-based, laboratory and bioinformatics evidence. Study participants were 22,864 ethnically diverse individuals referred by fertility clinics from across the USA for routine carrier screening between April 2012 and February 2014. Informed consent processes were followed for each patient.
The investigators identified 50 genetic variants of the gene for Bloom syndrome (BLM) that it deemed pathogenic, or associated with Bloom syndrome. The literature review turned up 76 variants, but some were excluded from the test's list of pathogenic sequences following further scrutiny by the scientists. During screening, they detected 39 carriers of 11 different mutations that it had previously identified as pathogenic. Using a subset of the data, the company found the carrier rate to be 1/510 subjects, consistent with the expected ratio based on prior knowledge.
The team identified 16 novel "truncating" variants that can be identified as pathogenic by their genetic sequence alone, and do not require laboratory experiments or statistical evidence to prove their association with the disease. More than a quarter of the carriers (28%) had one of the previously unidentified truncating genetic variants. About 40% of all carriers of Bloom syndrome genes had a known pathogenic variant that, to their knowledge, that was not included in any other commercial carrier screening test.
The authors concluded that their data indicate that using a comprehensive panel of rigorously evaluated variants for carrier screening a pan-ethnic population provides major advantages in terms of increased rates of carrier detection. Limited genotyping panels would have missed the carrier status of many of the individuals they identified because they were not carriers of the major ethnically specific common variants. The study was published online on April 23, 2015, in the journal Molecular Genetics & Genomic Medicine.
Related Links:
Good Start Genetics Inc.
Among those disease affecting Ashkenazi Jews is the rare condition Bloom syndrome, which causes varying degrees of immunodeficiency as well as sun sensitivity, telangiectatic erythema of the face, and stunted growth.
Scientists at the molecular information company Good Start Genetics, Inc. (Cambridge, MA, USA) conducted an extensive literature review and examining sequence-based, laboratory and bioinformatics evidence. Study participants were 22,864 ethnically diverse individuals referred by fertility clinics from across the USA for routine carrier screening between April 2012 and February 2014. Informed consent processes were followed for each patient.
The investigators identified 50 genetic variants of the gene for Bloom syndrome (BLM) that it deemed pathogenic, or associated with Bloom syndrome. The literature review turned up 76 variants, but some were excluded from the test's list of pathogenic sequences following further scrutiny by the scientists. During screening, they detected 39 carriers of 11 different mutations that it had previously identified as pathogenic. Using a subset of the data, the company found the carrier rate to be 1/510 subjects, consistent with the expected ratio based on prior knowledge.
The team identified 16 novel "truncating" variants that can be identified as pathogenic by their genetic sequence alone, and do not require laboratory experiments or statistical evidence to prove their association with the disease. More than a quarter of the carriers (28%) had one of the previously unidentified truncating genetic variants. About 40% of all carriers of Bloom syndrome genes had a known pathogenic variant that, to their knowledge, that was not included in any other commercial carrier screening test.
The authors concluded that their data indicate that using a comprehensive panel of rigorously evaluated variants for carrier screening a pan-ethnic population provides major advantages in terms of increased rates of carrier detection. Limited genotyping panels would have missed the carrier status of many of the individuals they identified because they were not carriers of the major ethnically specific common variants. The study was published online on April 23, 2015, in the journal Molecular Genetics & Genomic Medicine.
Related Links:
Good Start Genetics Inc.
Latest Molecular Diagnostics News
- Four-In-One Molecular Test Detects and Differentiates Among Most Prevalent Respiratory Viruses in 20 Minutes
- First-Line PSA Testing More Cost-Effective Than First-Line MRI for Prostate Cancer Screening
- Proteomics Platform Identifies Proteins in Blood to Give Cancer Warning 7 Years before Diagnosis
- AI Technology-Based Blood Test Identifies Lung Cancer Earlier
- Ultra-Sensitive Blood Test Predicts Breast Cancer Recurrence Months or Even Years before Relapse
- Prenatal Testing Offers Window for Finding Mother’s Cancer Risk
- New Molecular Test Detects More Cervical Cancer Cases
- New Panel Quickly and Accurately Identifies 16 Common Gastrointestinal Pathogens
- New DNA Testing Method Offers Faster and More Accurate Pathogen Identification
- Precise Cancer Detection Method as Quick and Easy as Blood Test
- DNA Spit Test More Accurate At Identifying Future Prostate Cancer Risk
- Novel Method Combining Nano Informatics and AI Paves Way for Cancer Blood Tests
- Groundbreaking Molecular Diagnostic Kit to Provide Lyme Disease Detection in Minutes
- New Assay Detects Heart Failure Biomarker in Less than 11 Minutes
- Innovative Test Improves Assessment of Patients with Mild Traumatic Brain Injury
- New Method for Lung Microbiomes Analysis Predicts Mortality in Children after Bone Marrow Transplant