Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures< /strong> < /h2>
Original research article by D. Stern et al. < /em> (2017) . < /p>
Read the abstract here< /a> . < /p>
This article used a Simons Foundation< /span> database to identify eight new people with PACS1-associated intellectual disability. These eight people carry the same de novo change in PACS1 as the 19 who were identified previously, and they have varying degrees of intellectual disability and developmental disability, as well as the now recognizable facial features. See the table below summarizing the findings reported in these articles. < /p>
100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Clinical Feature< /strong> < /td>
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Number of Individuals with Feature< /strong> < /td>
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Percentage ( % ) < /strong> < /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Intellectual Disability/Developmental Delay< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">27/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">100< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Abnormal speech< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">27/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">100< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Differences in facial features< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">27/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">100< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Seizures< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">17/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">63< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Cardiac (Heart) Abnormalities< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">12/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">44< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Autism Spectrum Disorder (ASD) < /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">8/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">30< /td>
< /tr>
< /tbody>
< /table>
< /p>
* *Differences in facial features include but are not limited to: < /p>
- Down-slanting palpebral fissures< /li>
- Wide mouth< /li>
- Thin upper lip< /li>
- Prominent ears< /li>
- Bulbous tip on nose< /li>
- Arched eyebrows< /li>
- Long eyelashes< /li>
< /ul>
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Read the abstract here< /a> . < /p>
This article used a Simons Foundation< /span> database to identify eight new people with PACS1-associated intellectual disability. These eight people carry the same de novo change in PACS1 as the 19 who were identified previously, and they have varying degrees of intellectual disability and developmental disability, as well as the now recognizable facial features. See the table below summarizing the findings reported in these articles. < /p>
< /p>
* *Differences in facial features include but are not limited to: < /p>
100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Clinical Feature< /strong> < /td>
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Number of Individuals with Feature< /strong> < /td>
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Percentage ( % ) < /strong> < /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Intellectual Disability/Developmental Delay< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">27/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">100< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Abnormal speech< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">27/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">100< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Differences in facial features< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">27/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">100< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Seizures< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">17/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">63< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Cardiac (Heart) Abnormalities< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">12/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">44< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Autism Spectrum Disorder (ASD) < /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">8/27< /td>
center; padding: 5px; border: 1px solid #d9d9d9;">30< /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