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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia Bergmann C; Zerres K; Senderek J; Rudnik-Schoneborn S; Eggermann T; Hausler M; Mull M; Ramaekers VTBrain 2003[Jul]; 126 (Pt 7): 1537-44We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus and hypogenitalism. Neuroimaging displayed fronto-temporal atrophy with rostral enlargement of the lateral ventricles, lower vermian agenesis and asymmetric cerebellar hypoplasia. Mutation analysis of the OPHN1 gene on Xq12 disclosed a genomic deletion of exon 19 causing a frameshift. Notably, OPHN1 mutations have been previously reported as a rare cause of non-syndromic X-linked mental retardation. Our findings, however, indicate that OPHN1 mutations result in a recognizable syndrome. In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy.|*Cytoskeletal Proteins[MESH]|*GTPase-Activating Proteins[MESH]|*Gene Deletion[MESH]|Base Sequence[MESH]|Cerebellum/pathology[MESH]|Child[MESH]|Child, Preschool[MESH]|Epilepsies, Myoclonic/genetics[MESH]|Female[MESH]|Humans[MESH]|Lateral Ventricles/pathology[MESH]|Male[MESH]|Molecular Sequence Data[MESH]|Nuclear Proteins/*genetics[MESH]|Pedigree[MESH]|Phosphoproteins/*genetics[MESH]|Sequence Alignment[MESH]|Syndrome[MESH]|X-Linked Intellectual Disability/*genetics/pathology[MESH] |
