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