De novo truncating mutations in the kinetochore-microtubules attachment gene   CHAMP1< /em> cause syndromic intellectual disability< /strong> < /h2>

Original research article by B. Isidor et al. < /em> (2016) . < /p>

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

Changes in the   CHAMP1< /em>   gene may be associated with a rare form of intellectual disability with speech impairment. The authors of this study found six children with changes in the   CHAMP1< /em>   gene. In all cases, the changes were de novo, or not found in either parent. Changes in the   CHAMP1   < /em>geneâ € ™s structure and function alter its ability to work with other crucial genes, impairing critical developmental functions. While the genetic changes in CHAMP1< /em> were different in each of the six children, all six have similar physical features and levels of developmental delay and/or intellectual disability. The researchersâ € ™ findings are summarized in the table below. < /p>

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white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Feature< /strong> < /td>	white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Number of Children Affected (out of 6) < /strong> < /td> < /tr>
5px; border: 1px solid #d9d9d9;">Developmental Delay/Intellectual Disability< /td>	5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Failure to Thrive< /td>	5px; border: 1px solid #d9d9d9;">2/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Delay in Walking< /td>	5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Speech Delay< /td>	5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Very Limited or No Speech Abilities< /td>	5px; border: 1px solid #d9d9d9;">6/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Problems/Issues with Behavior< /td>	5px; border: 1px solid #d9d9d9;">3/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Seizures< /td>	5px; border: 1px solid #d9d9d9;">1/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Skeletal Abnormalities< /td>	5px; border: 1px solid #d9d9d9;">5/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Facial Abnormalities< /td>	5px; border: 1px solid #d9d9d9;">5/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Eye Abnormalities< /td>	5px; border: 1px solid #d9d9d9;">5/6< /td> < /tr>
5px; border: 1px solid #d9d9d9;">Difficulty in Feeding/Eating< /td>	5px; border: 1px solid #d9d9d9;">3/6< /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