Association of Genetic Mutations With Intellectual Disability

Intellectual disability is defined as a broad concept involving mental retardation and other neurodegenerative diseases. Genetic mutations are responsible for intellectual disability.

Intellectual disability is also known as mental retardation. It is linked to genetic causes; however the exact pathology is not known in all cases.

Anita Ranch et al conducted a study to identify genetic variations responsible for sporadic non-syndromic intellectual disability, that is, intellectual disability appearing de-novo in the child and not a part of any syndrome.

Genetic Testing for Intellectual Disability
The cause of intellectual disability is often linked to the genes. Genetic testing helps to diagnose these defects in genes.

For the study purpose, 51 children with intellectual disability from the German Mental Retardation Network were enrolled. These children belonged to Switzerland and Germany. Comparisons were made between genetic sequences of parents and children in order to identify de-novo variants. Twenty children and their parents from KORA Augsburg Diabetes Family Study were enrolled as controls.

The researchers said that de-novo mutations are tiny indels and are associated with severe sporadic non-syndromic intellectual disability. Loss-of-function mutations were some of the de-novo mutations commonly associated with intellectual disability.

Thus, de-novo point mutations are involved in the development of non-syndromic intellectual disability.

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Reference:

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study; Anita Rauch et al; The Lancet Early Online Publication

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Source-Medindia

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