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>

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