期刊
NEUROLOGY
卷 65, 期 9, 页码 1364-1369出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000182813.94713.ee
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资金
- Telethon [492/B] Funding Source: Medline
Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X- linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. Objective: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. Methods: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected individuals: 196 patients classified as MRX and 17 patients with MR and previously detected cerebellar anomalies. Results: Four novel oligophrenin 1 mutations were identified. In the MRX group, two nonsense mutations were detected. In the MR group, two mutations were found: a deletion of exons 16 to 17 and a splice site mutation. All patients shared characteristic clinical, radiologic, and distinctive features with a degree of intrafamilial variability in motor and cognitive deficits. Conclusions: Oligophrenin 1 mutations were found in 12% (2/ 17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/ 196) of the X- linked mental retardation group.
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