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>
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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>
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