Document Detail


Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.
MedLine Citation:
PMID:  18798318     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Curry-Jones syndrome (OMIM #601707) is a rare multiple malformation disorder of unknown etiology, associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract. We report on two new cases of Curry-Jones syndrome with previously unreported features, including benign and malignant neoplasms. The first patient had typical features of Curry-Jones syndrome as well as multiple intra-abdominal smooth muscle hamartomas and trichoblastoma of the skin. The second patient was born with occipital meningoceles and developed a desmoplastic medulloblastoma. Routine lymphocyte karyotype, GLI3 gene analysis and Patched (PTCH) gene analysis on both patients and chromosome microarray analysis on the first patient were normal. We review the previously reported cases of Curry-Jones syndrome and compare our patients' findings. In view of the association of trichoblastoma with basal cell carcinoma and desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (NBCCS) and PTCH mutations, we hypothesize that Curry-Jones syndrome is caused by malfunction of an element in the sonic hedgehog pathway.
Authors:
Dorothy K Grange; Carol L Clericuzio; Susan J Bayliss; David R Berk; Richard L Heideman; Julie K Higginson; Stephanie Julian; Anne Lind
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-30     Completed Date:  2008-11-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2589-97     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Affiliation:
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA. grange_d@kids.wustl.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple* / etiology,  genetics,  pathology
Brain Neoplasms / etiology,  pathology
Child, Preschool
Coloboma / etiology,  pathology
Corpus Callosum / abnormalities
Female
Gastrointestinal Tract / abnormalities
Hamartoma / etiology,  pathology
Humans
Hydrocephalus / etiology
Infant
Kruppel-Like Transcription Factors / genetics,  metabolism
Male
Medulloblastoma* / etiology,  pathology
Meningocele / etiology,  pathology
Nerve Tissue Proteins / genetics,  metabolism
Receptors, Cell Surface / genetics,  metabolism
Skin Neoplasms* / etiology,  pathology
Skull / abnormalities
Syndactyly / etiology,  pathology
Syndrome
Chemical
Reg. No./Substance:
0/GLI3 protein, human; 0/Kruppel-Like Transcription Factors; 0/Nerve Tissue Proteins; 0/Receptors, Cell Surface; 0/patched receptors

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