H. Roudgari, P. Farndon, A. Murray, C. Hardy, Z. Miedzybrodzka


1399-0004 (Electronic) 0009-9163 (Linking)

Publication year



Clin Genet

Periodical Number



Author Address

Division of Applied Medicine, College of Life Sciences & Medicine, University of Aberdeen, Foresterhill, Aberdeen, UK Department of Genetics and Biochemistry, Medical School, Mazandaran University of Medical Sciences, Sari, Mazandaran, Iran Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK Aberdeen Biomedical Imaging Centre, Foresterhill, Aberdeen, UK West Midlands Regional Genetics Lab, Birmingham Women's Hospital, Edgbaston, Birmingham, UK Medical Genetics Department, Ashgrove House, Foresterhill, Aberdeen Royal Infirmary, UK.

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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.