monogenic disorder


Also found in: Dictionary, Thesaurus, Legal, Encyclopedia, Wikipedia.

monogenic disorder

A disorder caused by mutation of a single gene—i.e., based on simple mendelian genetics.
Mentioned in ?
References in periodicals archive ?
To study the prevalence of lipid abnormalities and recognition of monogenic disorders of lipoprotein metabolism in this population, an audit of the lipid requests was performed at this hospital.
The most definitive role for genes in arrhythmogenesis came from the study of monogenic disorders that result in sudden death.
Sickle cell anaemia is one of the most common monogenic disorders globally with an autosomal recessive inheritance.
Sequencing of the exome, rather than the entire human genome, is a reasonably efficient strategy to search for rare monogenic disorders.
Haemoglobinopathies are not the most common monogenic disorders in SA, but from the data summarised above it is clear that they do occur at significant frequencies in high-risk minority groups, and when detected appropriate genetic counselling can be offered.
This study group proposed the method of case-cohort study with flow chart, including the investigation of STORCH infections and other potential teratogens such as fetal alcohol syndrome and the dozens of genetic syndromes, from chromosomal abnormalities identified by karyotyping, such as microdeletions and microduplications identified by genomic array techniques to monogenic disorders identified by the techniques known as next generation sequencing (9,10).
PGD is available for a large number of monogenic disorders such as single gene disorders (autosomal recessive, autosomal dominant or X-linked) or chromosomal structural aberrations (such as a balanced translocation).
Thalassemia is one of the most prevalent monogenic disorders which appears due to the non- or reduced synthesis in one or more globin chains.
This result provides the basis for extending the applications to monogenic disorders, which comprise a larger proportion of genetic diseases than chromosomal aneuploidies.
Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can also be isolated malformations or dysmorphic features of genetic associations, monogenic disorders, and various numeric and structural chromosomal aberrations.
To reduce the burden of highly prevalent monogenic disorders, it is essential that disease progression be halted at the carrier stage.