دورية أكاديمية
Deletion of the 'OPHN1' Gene Detected by aCGH
| العنوان: | Deletion of the 'OPHN1' Gene Detected by aCGH |
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| اللغة: | English |
| المؤلفون: | Madrigal, I., Rodriguez-Revenga, L., Badenas, C. |
| المصدر: | Journal of Intellectual Disability Research. Mar 2008 52(3):190-194. |
| الإتاحة: | Blackwell Publishing. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8599; Fax: 781-388-8232; e-mail: customerservices@blackwellpublishing.com; Web site: http://www.blackwellpublishing.com/jnl_default.asp |
| Peer Reviewed: | Y |
| وصف مادي: | |
| Page Count: | 5 |
| تاريخ النشر: | 2008 |
| نوع الوثيقة: | Journal Articles Reports - Research |
| Descriptors: | Mental Retardation, Genetics, Medical Research, Males, Neurological Impairments, Brain |
| DOI: | 10.1111/j.1365-2788.2007.00997.x |
| تدمد: | 0964-2633 |
| مستخلص: | Background: The oligophrenin 1 gene ("OPHN1") is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis. Mutations in this gene are implicated in X-linked mental retardation (XLMR). Methods: We report a deletion spanning exons 21 and 22 of the "OPHN1" gene identified by a tiling path X-chromosome array comparative genomic hybridization (CGH) and multiplex ligation-dependent probe amplification, confirmed by polymerase chain reaction (PCR), in a family with four males with intellectual disabilities. Results: Patients harbouring mutations in this gene share the same clinical manifestations reinforcing the idea of a syndromic XLMR. The most important neurological findings are cerebellar hypoplasia and ventriculomegaly. Conclusions: We recommend screening of the "OPHN1" gene in male patients with XLMR and cerebellar anomalies. This case highlights the value of high-resolution techniques as Multiplex Ligation Probe Amplification (MLPA) and CGH array for a better characterization of copy number changes and suggests that MLPA technology may be very useful for an initial screening of small deletions and duplications in XLMR patients. |
| Abstractor: | Author |
| Number of References: | 14 |
| Entry Date: | 2008 |
| رقم الأكسشن: | EJ784742 |
| قاعدة البيانات: | ERIC |
Full Text Finder | تدمد: | 0964-2633 |
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| DOI: | 10.1111/j.1365-2788.2007.00997.x |