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.
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.
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