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    
Abstract/OtherAbstract:
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.
Authors:
Carsten Bergmann; Klaus Zerres; Jan Senderek; Sabine Rudnik-Schoneborn; Thomas Eggermann; Martin Häusler; Michael Mull; Vincent T Ramaekers
Related Documents :
16105728 - Lack of association between variations in the brain-derived neurotrophic factor (bdnf) ...
7909818 - Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage anal...
10737118 - Recent progress in the genetics of human epilepsies.
19841378 - Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with gefs+.
24731848 - Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the g...
23997648 - Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screenin...
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    
Affiliation:
Department of Human Genetics, Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany. cbergmann@ukaachen.de
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Base Sequence
Cerebellum / pathology
Child
Child, Preschool
Cytoskeletal Proteins*
Epilepsies, Myoclonic / genetics
Female
GTPase-Activating Proteins*
Gene Deletion*
Humans
Lateral Ventricles / pathology
Male
Mental Retardation, X-Linked / genetics*,  pathology
Molecular Sequence Data
Nuclear Proteins / genetics*
Pedigree
Phosphoproteins / genetics*
Sequence Alignment
Syndrome
Chemical
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


Previous Document:  Parkinson's disease: piecing together a genetic jigsaw.
Next Document:  Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide ...