Document Detail

New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.
MedLine Citation:
PMID:  17950424     Owner:  NLM     Status:  MEDLINE    
Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and mental retardation. A few cases of epilepsy with nevoid basal-cell carcinoma syndrome were reported. We report on a patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene. This mutation causes a shift of the reading frame, and creates a stop codon predicting the truncation of the PTCH protein. This mutation was not found in previously described patients with nevoid basal-cell carcinoma syndrome.
Nobutada Tachi; Katsunori Fujii; Mitsugu Kimura; Kouhei Seki; Masahisa Hirakai; Toshiyuki Miyashita
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  37     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-10-22     Completed Date:  2008-01-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  363-5     Citation Subset:  IM    
School of Health Sciences, Sapporo Medical University, Sapporo, Japan.
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MeSH Terms
Basal Cell Nevus Syndrome / complications,  genetics*
Brain Neoplasms / complications,  genetics*
DNA Mutational Analysis / methods
Mutation / genetics*
Receptors, Cell Surface / genetics*
Spasms, Infantile / complications,  genetics*
Reg. No./Substance:
0/Receptors, Cell Surface; 0/patched receptors

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