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>

100% ; border: 1px solid black;">

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> English Afrikaans Albanian Amharic Arabic Armenian Azerbaijani Basque Belarusian Bengali Bosnian Bulgarian Catalan Cebuano Chichewa Chinese (Simplified) Chinese (Traditional) Corsican Croatian Czech Danish Dutch English Esperanto Estonian Filipino Finnish French Frisian Galician Georgian German Greek Gujarati Haitian Creole Hausa Hawaiian Hebrew Hindi Hmong Hungarian Icelandic Igbo Indonesian Irish Italian Japanese Javanese Kannada Kazakh Khmer Korean Kurdish (Kurmanji) Kyrgyz Lao Latin Latvian Lithuanian Luxembourgish Macedonian Malagasy Malay Malayalam Maltese Maori Marathi Mongolian Myanmar (Burmese) Nepali Norwegian Pashto Persian Polish Portuguese Punjabi Romanian Russian Samoan Scottish Gaelic Serbian Sesotho Shona Sindhi Sinhala Slovak Slovenian Somali Spanish Sudanese Swahili Swedish Tajik Tamil Telugu Thai Turkish Ukrainian Urdu Uzbek Vietnamese Welsh Xhosa Yiddish Yoruba Zulu We care about your data, and we'd like to use cookies to give you a smooth browsing experience. Please agree and read more about our privacy policy.AGREE