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>

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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> 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