Sentence examples for mutations causing monogenic from inspiring English sources

The estimated prevalence of mutations causing monogenic forms of obesity ranges from 1 to 5% in severely obese subjects, with mutations in MC4R being most common [2].

Supporting this notion, previous studies have not found altered birth weight in carriers of mutations causing monogenic forms of obesity [27].

We developed a targeted next-generation sequencing assay to identify mutations causing monogenic diabetes and tested it in a cohort of patients in whom previous testing for MODY or neonatal diabetes had failed to confirm a genetic diagnosis.

The majority of the genes, in which mutations cause monogenic obesity, are involved in the control of appetite and food intake through the hypothalamus [28].

As far as I know, there is no evidence that synonymous mutations cause monogenic forms of intellectual disability.

Moreover, it seems that there is still some potential in exploring the role of genes in which mutations cause monogenic diabetes in polygenic forms of the disease.

Diagnosing a mutation causing monogenic obesity will enable pharmacological treatment in some instances and is a psychological relief for the patient and the relatives.

They are distinguished from mutations that cause monogenic diseases, which are rare but convey large risks.

Authors' response: We are not aware of synonymous mutations that cause monogenic forms of intellectual disability.

The information problem will be even greater for whole-genome sequencing, which will reveal not only SNPs that are weakly associated with risks of multifactorial diseases, but also highly predictive mutations that cause monogenic diseases.

There are rare mutations in peroxisome proliferator activated receptor (PPAR)γ causing monogenic diabetes, but the common Pro12Ala polymorphism is also associated with type 2 diabetes, with the more common Pro allele increasing diabetes risk.