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>

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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> 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