Refining analyses of copy number variation identifies specific genes associated with developmental delay< /strong> < /h2>

Original research article by B.P. Coe� � et al. < /em> (2014) . < /p>

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

Using data available from large-scale clinical microarrays, Coe et al. identified copy number variants (CNVs) thought to be associated with developmental delay (DD) and/or autism (ASD) and intellectual disability (ID) . With further analysis of these CNVs in nearly 7,000 affected and unaffected individuals, the authors were able to identify 26 candidate genes, or genes with enough evidence to link them to ASD, ID, or DD. One such candidate gene is SETBP1< /em> . Within this population, Coe et al. observed genetic changes, called � � �loss of function� � � mutations (mutations that stop or impair typical gene function) in SETPB1< /em> . The authors identified 13 individuals with a mutation in the SETBP1 < /em>gene. Most with varying degrees of ID/DD, delays in language skills, as well as other physical and behavioral differences (see table below) . Research such as the study described in this article can be important to identifying new syndromes and genes in the future. < /p>

center;"> Features Observed in Individuals with SETBP1< /em> Loss of Function Mutations< /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>	white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Percentage ( % ) < /strong> < /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Intellectual Disability (ID) /Developmental Delay (DD) < /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">11/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">85< /td> < /tr>
right; background-color: #ffbcb0; padding: 5px; border: 1px solid #d9d9d9;">Mild to Moderate ID< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">7/11< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">64< /td> < /tr>
right; background-color: #ffbcb0; padding: 5px; border: 1px solid #d9d9d9;">Severe ID< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">2/11< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">18< /td> < /tr>
right; background-color: #ffbcb0; padding: 5px; border: 1px solid #d9d9d9;">Profound ID< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">1/11< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">9< /td> < /tr>
right; background-color: #ffbcb0; padding: 5px; border: 1px solid #d9d9d9;">Global Delay< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">1/11< /td>	left; padding: 5px; border: 1px solid #d9d9d9;">9< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Speech Delay< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">13/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">100< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Motor Delay< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">13/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">100< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Differences in Facial Features< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">13/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">100< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Hyperactivity/ADHD< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">6/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">46< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Behavioral Differences< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">6/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">46< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Difficulties with Social Settings/Situations< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">5/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">38< /td> < /tr>
#ffbcb0; padding: 5px; border: 1px solid #d9d9d9;"> Seizures/Abnormal EEG< /strong> < /td>	center; padding: 5px; border: 1px solid #d9d9d9;">5/13< /td>	center; padding: 5px; border: 1px solid #d9d9d9;">38< /td> < /tr> < /tbody> < /table> 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