Premium
Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog‐patched‐GLI pathway
Author(s) -
Grange Dorothy K.,
Clericuzio Carol L.,
Bayliss Susan J.,
Berk David R.,
Heideman Richard L.,
Higginson Julie K.,
Julian Stephanie,
Lind Anne
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32503
Subject(s) - nevoid basal cell carcinoma syndrome , patched , medulloblastoma , basal cell carcinoma , pathology , sonic hedgehog , hedgehog signaling pathway , ptch1 , biology , medicine , genetics , basal cell , gene
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. © 2008 Wiley‐Liss, Inc.