Parents

Human DNA is composed of different genes that have the information to produce different proteins. One such gene is LINS1 that encodes LINS1 protein.

The LINS1 protein is a key protein in the WNT signalling pathway. During the development of embryo in all animals, different proteins help in different processes and instruct the cells to carry out their respective function through a signalling pathway- WNT signalling. Interaction between the different proteins lead to the formation of different organ systems including the nervous system and brain development. Hence, if any of these signals are not working properly, then there is a miscommunication and improper development. This will then affect the normal functioning of the organ systems and impair proper development of the brain. Hence, people with a defective LINS1 protein show intellectual disability as the main clinical feature.

Intellectual disability has an overall prevalence of ~1% in the general population worldwide. It is estimated to affect a higher proportion of males, children/adolescents and people from low-middle income countries.