Significats de causative mutation en anglès

In 50 cases, there was a causative mutation in a known monogenic disease gene.

No causative mutation was detected in the affected patients.

In half the families a causative mutation was found.

Objectives: Mosaicism in certain dominant disorders may result in a 'non-Mendelian' transmission for the causative mutation.

This causative mutation is extremely rare in the population, and it has not yet been reported.

Thus to trace the causative mutation(s) there is a great need for efficient bioinformatic strategies.

Methods: Analysis of the causative mutation as well as the standardized, systemic phenotypic analysis of the mutant line was carried out.

Through positional cloning, we have identified a causative mutation in a highly conserved and ubiquitously expressed gene within the ffr locus.

The most common approach is to identify genes whose eQTL colocalize with QTL of interest, providing new functional hypothesis about the causative mutation.

We were able to efficiently map the causative mutation using family-based genome-wide association studies combined with whole-exome sequencing and a small sample size.

Exome sequencing was performed to identify causative mutation(s) and Sanger re-sequencing was performed to validate segregation of mutation in the family.

However, there are a number of patients with the clinical diagnosis of CSS or NCBRS in whom the causative mutation has not been identified.

Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children.

We have used a combination of autozygome-guided candidate gene mutation analysis and exome sequencing to identify the causative mutation in a series of 12 families.

Using whole-genome sequencing, we identify the causative mutation for one line to be in the fragile X mental retardation protein (FMRP)-interacting protein cyfip2.

Prenatal diagnosis should be suggested to the parent with a DMD proband whether carrier testing found the causative mutation in the mother's blood or not.