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Published online before print October 12, 2005, doi:10.1212/01.wnl.0000182813.94713.ee)
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Received February 1, 2005
Accepted July 19, 2005

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

G. Zanni MD, Y. Saillour BSc, M. Nagara BSc, P. Billuart PhD, L. Castelnau BSc, C. Moraine MD, L. Faivre MD, E. Bertini MD, A. Durr MD, PhD, A. Guichet MD, D. Rodriquez MD, PhD, V. des Portes MD, PhD, C. Beldjord PhD, and J. Chelly MD, PhD*

From the University of Paris 5 René Descartes (Drs. Zanni, Billuart, Beldjord, and Chelly, Y. Saillour, M. Nagara, and L. Castelnau), INSERM Unité 567, CNRS UMR8104, Paris, France; Service de Génétique (Dr. Moraine), Hôpital Bretonneau, INSERM U 316, CHU de Tours, Centre de Génétique (Dr. Faivre), Service de Pédiatrie, CHU Dijon, Department of Neurosciences (Drs. Zanni and Bertini), Unit of Molecular Medicine Ospedale Pediatrico Bambi Gesù, Rome Italy; Department of Human Genetics (Dr. Kleefstra), University Medical Centre Nijmegen, The Netherlands; Départment de Génétique (Dr. Durr), INSERM U 289, Hôpital de la Salpêtrière, Paris, France; Service de Génétique (Dr. Guichet), CHU d’ Anger, France; Service de Neuropédiatrie (Dr. Rodriguez), Hôpital Armand-Trousseau, Paris, France; and Service de Neruopédiatrie (Dr. des Portes), Centre Hospitalier Lyon-Sud, France.


* To whom correspondence should be addressed. E-mail: chelly{at}cochin.inserm.fr.

Abstract-- 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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