Expanding the tuberous sclerosis phenotype: Mild disease caused by a TSC1 splicing mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 3, 2010, Pages 350-352

  Blyth, Moira ^a,b   Raponi, Michela ^a   Treacy, Rebecca ^c   Raymond, F Lucy ^c,d   Yates, John R W ^c,d   Baralle, Diana ^a,b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE;

AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; EPILEPSY; GENE DELETION; GENE INSERTION; GENE MUTATION; HAMARTOMA; HUMAN; INTRON; LETTER; MALE; MENTAL DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; RNA TRANSCRIPTION; TONIC CLONIC SEIZURE; TUBEROUS SCLEROSIS;

ALLELES; CHILD; CHILD, PRESCHOOL; CODON; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INTRONS; MALE; MUTAGENESIS, INSERTIONAL; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 77649106685     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.179689     Document Type: Letter

References (5)

1. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624-8.
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3. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80.
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5. Mayer K, Goedbloed M, van Zijl K, et al. Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis. J Med Genet 2004;41:e64.