Document Detail

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
MedLine Citation:
PMID:  12805098     Owner:  NLM     Status:  MEDLINE    
We 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.
Carsten Bergmann; Klaus Zerres; Jan Senderek; Sabine Rudnik-Schoneborn; Thomas Eggermann; Martin Häusler; Michael Mull; Vincent T Ramaekers
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2003-05-21
Journal Detail:
Title:  Brain : a journal of neurology     Volume:  126     ISSN:  0006-8950     ISO Abbreviation:  Brain     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-06-23     Completed Date:  2003-09-16     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0372537     Medline TA:  Brain     Country:  England    
Other Details:
Languages:  eng     Pagination:  1537-44     Citation Subset:  AIM; IM    
Department of Human Genetics, Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany.
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MeSH Terms
Base Sequence
Cerebellum / pathology
Child, Preschool
Cytoskeletal Proteins*
Epilepsies, Myoclonic / genetics
GTPase-Activating Proteins*
Gene Deletion*
Lateral Ventricles / pathology
Mental Retardation, X-Linked / genetics*,  pathology
Molecular Sequence Data
Nuclear Proteins / genetics*
Phosphoproteins / genetics*
Sequence Alignment
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/GTPase-Activating Proteins; 0/Nuclear Proteins; 0/OPHN1 protein, human; 0/Phosphoproteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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