A recurrent de novo CTBP1 < /em>mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects< /strong> < /h2>
Original research article by D.B. Beck et al. < /em> (2016) . < /p>
Read the abstract here< /a> . < /p>
The researchers performed whole exome sequencing on people affected with neurodevelopmental disorders, and their parents. They found four people with a change in the CTBP1< /em>  gene. The CTBP1< /em>  gene has a critical role in regulating and coordinating development. The four people exhibited similar clinical features, suggesting that CTBP1< /em>  may be linked to these features. The four people, who ranged in age from 8 to 20 years old, had developmental delay and intellectual disability, low muscle tone, issues with muscle coordination, difficulty gaining weight, and dental defects. The CTBP1< /em>  gene is not currently linked to any certain diagnosis. < /p>
100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;" colspan="2"> Clinical Features Observed in Individuals with CTBP1< /em> Gene Changes< /strong> < /td>
< /tr>
white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;"> Neurodevelopmental Features< /strong> < /td>
5px; border: 1px solid #d9d9d9;">
- Global developmental delay< /li>
- Intellectual disability< /li>
- Motor function delay< /li>
< /ul>
< /td>
< /tr>
white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;"> Physical Features< /strong> < /td>
5px; border: 1px solid #d9d9d9;">
- Slow weight gain< /li>
- Low muscle tone; muscle weakness< /li>
- Ataxia (problems walking, standing, etc. ) < /li>
- Some differences in facial features observed< /li>
< /ul>
< /td>
< /tr>
white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;"> Dental Features< /strong> < /td>
5px; border: 1px solid #d9d9d9;">
- Enamel defects< /li>
- Discoloration< /li>
- Spacing of teeth< /li>
< /ul>
< /td>
< /tr>
< /tbody>
< /table>
< /p>
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Read the abstract here< /a> . < /p>
The researchers performed whole exome sequencing on people affected with neurodevelopmental disorders, and their parents. They found four people with a change in the CTBP1< /em>  gene. The CTBP1< /em>  gene has a critical role in regulating and coordinating development. The four people exhibited similar clinical features, suggesting that CTBP1< /em>  may be linked to these features. The four people, who ranged in age from 8 to 20 years old, had developmental delay and intellectual disability, low muscle tone, issues with muscle coordination, difficulty gaining weight, and dental defects. The CTBP1< /em>  gene is not currently linked to any certain diagnosis. < /p>
< /p>
100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;" colspan="2"> Clinical Features Observed in Individuals with CTBP1< /em> Gene Changes< /strong> < /td>
< /tr>
white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;"> Neurodevelopmental Features< /strong> < /td>
5px; border: 1px solid #d9d9d9;">
white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;"> Physical Features< /strong> < /td>
5px; border: 1px solid #d9d9d9;">
white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;"> Dental Features< /strong> < /td>
5px; border: 1px solid #d9d9d9;">
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