De novo truncating mutations in the kinetochore-microtubules attachment gene¬ CHAMP1< /em> cause syndromic intellectual disability< /strong> < /h2>

Original research article by B. Isidor et al. < /em> (2016) . < /p>

Read the abstract here< /a> . < /p>

Changes in the¬ CHAMP1< /em> ¬ †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< /em> ¬ †gene. In all cases, the changes were de novo, or not found in either parent. Changes in the¬ CHAMP1¬ < /em>gene‚ Ä ôs structure and function alter its ability to work with other crucial genes, impairing critical developmental functions. While the genetic changes in CHAMP1< /em> 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‚ Ä ô findings are summarized in the table below. < /p>

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white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Feature< /strong> < /td> white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Number of Children Affected (out of 6) < /strong> < /td> < /tr>
5px; border: 1px solid #d9d9d9;">Developmental Delay/Intellectual Disability< /td> 5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Failure to Thrive< /td> 5px; border: 1px solid #d9d9d9;">2/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Delay in Walking< /td> 5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Speech Delay< /td> 5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Very Limited or No Speech Abilities< /td> 5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Problems/Issues with Behavior< /td> 5px; border: 1px solid #d9d9d9;">3/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Seizures< /td> 5px; border: 1px solid #d9d9d9;">1/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Skeletal Abnormalities< /td> 5px; border: 1px solid #d9d9d9;">5/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Facial Abnormalities< /td> 5px; border: 1px solid #d9d9d9;">5/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Eye Abnormalities< /td> 5px; border: 1px solid #d9d9d9;">5/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Difficulty in Feeding/Eating< /td> 5px; border: 1px solid #d9d9d9;">3/6< /td> < /tr> < /tbody> < /table>