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>
< /p>
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>
< /p>
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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>
< /p>
< /p>
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>
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