Mutations in ARID2 are associated with intellectual disabilities
| العنوان: | Mutations in ARID2 are associated with intellectual disabilities |
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| المؤلفون: | Alejandro Iglesias, Leandra Folk, Yufeng Shen, Jane Juusola, Wendy K. Chung, Luis Rohena, Anne H. O’Donnell-Luria, Jennifer B. Humberson, Alpa Sidhu, Patrik Vitazka, Sheila Saliganan, Linshan Shang, Kyle Retterer, Megan T. Cho |
| المصدر: | neurogenetics. 16:307-314 |
| بيانات النشر: | Springer Science and Business Media LLC, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Male, Adolescent, Developmental Disabilities, Biology, Bioinformatics, Short stature, Cellular and Molecular Neuroscience, Intellectual Disability, Genetics, medicine, Humans, Attention deficit hyperactivity disorder, Exome, Child, Genetics (clinical), Loss function, Exome sequencing, Zinc finger, medicine.disease, Human genetics, Mutation, Etiology, Autism, Female, medicine.symptom, Transcription Factors |
| الوصف: | The etiology of intellectual disabilities (ID) remains unknown for the majority of patients. Due to reduced reproductive fitness in many individuals with ID, de novo mutations account for a significant portion of severe ID. The ATP-dependent SWI/SNF chromatin modifier has been linked with neurodevelopmental disorders including ID and autism. ARID2 is an intrinsic component of polybromo-associated BAF (PBAF), the SWI/SNF subcomplex. In this study, we used clinical whole exome sequencing (WES) in proband-parent-trios to identify the etiology of ID. We identified four independent, novel, loss of function variants in ARID2 gene in four patients, three of which were confirmed to be de novo. The patients all have ID and share other clinical characteristics including attention deficit hyperactivity disorder, short stature, dysmorphic facial features, and Wormian bones. All four novel variants are predicted to lead to a premature termination with the loss of the two conservative zinc finger motifs. This is the first report of mutations in ARID2 associated with developmental delay and ID. |
| تدمد: | 1364-6753 1364-6745 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb8af2a0dabd17f08e61142c469888e4Test https://doi.org/10.1007/s10048-015-0454-0Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....bb8af2a0dabd17f08e61142c469888e4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13646753 13646745 |
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