Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004134 (
ataxia
)
15,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. 1280 98
