Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 71-76 |
| Number of pages | 6 |
| Journal | Clinical Genetics |
| Volume | 82 |
| Issue number | 1 |
| Early online date | 30 Jun 2011 |
| DOIs | |
| Publication status | Published - Jul 2012 |
Keywords
- basal cell carcinoma
- Gorlin syndrome
- meningocele
- mild mental retardation
- neural tube defects
- nevoid basal cell carcinoma
- PTCH gene
- spina bifida
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Cite this
Roudgari, H., Farndon, P. A., Murray, A. D., Hardy, C., & Miedzybrodzka, Z. (2012). 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. Clinical Genetics, 82(1), 71-76. https://doi.org/10.1111/j.1399-0004.2011.01725.x