ERIC Number: EJ784742
Record Type: Journal
Publication Date: 2008-Mar
Reference Count: 14
Deletion of the "OPHN1" Gene Detected by aCGH
Madrigal, I.; Rodriguez-Revenga, L.; Badenas, C.; Sanchez, A.; Mila, M.
Journal of Intellectual Disability Research, v52 n3 p190-194 Mar 2008
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.
Blackwell Publishing. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8599; Fax: 781-388-8232; e-mail: email@example.com; Web site: http://www.blackwellpublishing.com/jnl_default.asp
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A