De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability

Original research article by B. Isidor et al. (2016).

Read the abstract here.

Changes in the CHAMP1 gene may be associated with a rare form of intellectual disability with speech impairment. The authors of this study found six children with changes in the CHAMP1 gene. In all cases, the changes were de novo, or not found in either parent. Changes in the CHAMP1 gene’s structure and function alter its ability to work with other crucial genes, impairing critical developmental functions. While the genetic changes in CHAMP1 were different in each of the six children, all six have similar physical features and levels of developmental delay and/or intellectual disability. The researchers’ findings are summarized in the table below.

Feature	Number of Children Affected (out of 6)
Developmental Delay/Intellectual Disability	6/6
Failure to Thrive	2/6
Delay in Walking	6/6
Speech Delay	6/6
Very Limited or No Speech Abilities	6/6
Problems/Issues with Behavior	3/6
Seizures	1/6
Skeletal Abnormalities	5/6
Facial Abnormalities	5/6
Eye Abnormalities	5/6
Difficulty in Feeding/Eating	3/6