Premium
Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report
Author(s) -
Roudgari H,
Farndon P A,
Murray A D,
Hardy C,
Miedzybrodzka Z
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01725.x
Subject(s) - neural tube , patched , neurulation , neural tube defect , anatomy , spina bifida , biology , hedgehog , nevoid basal cell carcinoma syndrome , genetics , pathology , medicine , basal cell carcinoma , gene , embryo , gastrulation , embryonic stem cell , basal cell
Roudgari H, Farndon PA, Murray AD, Hardy C, Miedzybrodzka Z. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report. The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinoma (NBCC) or Gorlin syndrome is well established. Animal studies have implicated the hedgehog‐patched signalling pathway in neurulation and neural tube defects (NTDs). Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation.