De novo truncating mutations in the AHDC1< /em> gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay< /strong> < /h2>

Original research report by H. Yang et al. < /em> (2015) . < /p>

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

Researchers tested 2,157 people using whole-exome sequencing to identify 7 people with changes in the AHDC1< /em> gene. The changes were de novo, meaning they were not found in either parent. Changes in the AHDC1< /em> gene are believed to disrupt brain development and to be associated with intellectual disability. The people the researchers identified ranged in age from 2 to 16 years. All of them had significant intellectual disability or developmental delay and limited or no verbal skills, among other clinical features. These features are summarized below. < /p>

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white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Clinical Features in Individuals with an AHDC1 gene change< /strong> < /td> white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Number of Individuals with Feature< /strong> < /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Developmental delay/Intellectual disability< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">7/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Limited or no verbal skills< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">7/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Hypotonia (Low muscle tone) < /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">6/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Differences in facial features< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">6/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Current growth problems with or without a history of growth problems< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">5/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Behavioral issues< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">5/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Structural abnormalities of the eye(s) < /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">5/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Abnormal brain imaging< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">5/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Sleeping issues (i.e. sleep apnea, restlessness, trouble falling and/or staying asleep, etc. ) < /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">4/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Autism Spectrum Disorder (ASD) Diagnosis< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">2/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Seizures/Epileptic activity< /strong> < /td> 5px; border: 1px solid #d9d9d9; text-align: center;">2/7< /td> < /tr> < /tbody> < /table>