De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism< /strong> < /h2>

Original research article by L. Shang et al. < /em> (2016) < /p>

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

Intellectual Disability (ID) and autism spectrum disorder (ASD) often have a genetic basis; however, identifying this genetic basis often poses a challenge to clinicians and researchers. With new developments in technology over the years, whole-exome sequencing (WES) has become a helpful method in identifying new gene changes associated with many different conditions. < /p>

WES was performed in 2,790 people with ID and/or developmental delay (DD) . Of these 2,790 people, researchers identified seven with de novo changes (changes not found in either parent) in the PPP2R5D< /em> gene. The PPP2R5D < /em>gene is linked to a protein in the brain which plays an important role in signaling within the brain, neuron development, and regulation processes. Changes in this gene can have an effect on development. < /p>

The seven people identified with PPP2R5D changes ranged in age from 22 months to 15 years old. All seven had ID and/or DD, delays in walking and talking (with two people noted as being non-verbal) , and low muscle tone (hypotonia) . All but one person was diagnosed with ASD, and all but one person was observed as having macrocephaly (larger than typical head size) . See the table below for additional clinical features observed. These findings support the idea the PPP2R5D gene is linked to ID and ASD. < /p>

center;"> Clinical Features Observed in 7 People with PPP2R5D< /strong> Changes< /strong> < /p>

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100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Clinical Feature< /strong> < /td> white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Number of Individuals with Feature< /strong> < /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Intellectual Disability/Developmental Delay< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">7/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Delayed walking< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">7/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Delayed language/speech< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">7/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Low IQ< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">4/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Macrocephaly< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">6/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Hypotonia< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">7/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Autism Spectrum Disorder< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">6/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Behavioral issues< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">4/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Seizures< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">1/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Differences in facial features< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">6/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Brain abnormalities< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">4/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Skeletal abnormalities< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">3/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Ophthalmological abnormalities< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">5/7< /td> < /tr>
5px; border: 1px solid #d9d9d9;"> Cardiac abnormalities< /strong> < /td> center; padding: 5px; border: 1px solid #d9d9d9;">7/7< /td> < /tr> < /tbody> < /table>

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