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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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>   < /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