دورية أكاديمية
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
| العنوان: | A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype |
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| المؤلفون: | Beunders, G., Kamp, J. van der, Vasudevan, P., Morton, J., Smets, K., Kleefstra, T., Munnik, S.A. de, Schuurs-Hoeijmakers, J.H.M., Ceulemans, B., Zollino, M., Hoffjan, S., Wieczorek, S., So, J., Mercer, L., Walker, T., Velsher, L., Parker, M.J., Magee, A.C., Elffers, B., Kooy, R.F., Yntema, H.G., Meijers-Heijboer, E.J., Sistermans, E.A. |
| المصدر: | Journal of Medical Genetics, 53, 8, pp. 523-32 |
| سنة النشر: | 2016 |
| المجموعة: | Radboud University: DSpace |
| مصطلحات موضوعية: | Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences |
| الوصف: | Item does not contain fulltext ; BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. METHODS: We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation or deletion in AUTS2. All patients were systematically evaluated by the same clinical geneticist. RESULTS: All patients have borderline to severe ID/developmental delay, 83-100% have microcephaly and feeding difficulties. Congenital malformations are rare, but mild heart defects, contractures and genital malformations do occur. There are no major health issues in the adults; the oldest of whom is now 59 years of age. Behaviour is marked by it is a friendly outgoing social interaction. Specific features of autism (like obsessive behaviour) are seen frequently (83%), but classical autism was not diagnosed in any. A mild clinical phenotype is associated with a small in-frame 5' deletions, which are often inherited. Deletions and other mutations causing haploinsufficiency of the full-length AUTS2 transcript give a more severe phenotype and occur de novo. CONCLUSIONS: The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/2066/167695Test; https://doi.org/10.1136/jmedgenet-2015-103601Test |
| DOI: | 10.1136/jmedgenet-2015-103601 |
| الإتاحة: | https://doi.org/10.1136/jmedgenet-2015-103601Test http://hdl.handle.net/2066/167695Test |
| رقم الانضمام: | edsbas.99E58F01 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmedgenet-2015-103601 |
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