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

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

Research output: Contribution to journal › Article

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)71-76
Number of pages6
JournalClinical Genetics
Volume82
Issue number1
Early online date30 Jun 2011
DOIs
Publication statusPublished - Jul 2012

Fingerprint

Basal Cell Nevus Syndrome
Chest Tubes
Neural Tube Defects
Spina Bifida Cystica
Neurulation
Hedgehogs
Genes
Nuclear Family
Spina Bifida Occulta
Mutation
Genetic Association Studies
Fathers
Spine
Thorax

Keywords

  • basal cell carcinoma
  • Gorlin syndrome
  • meningocele
  • mild mental retardation
  • neural tube defects
  • nevoid basal cell carcinoma
  • PTCH gene
  • spina bifida

Cite this

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

In: Clinical Genetics, Vol. 82, No. 1, 07.2012, p. 71-76.

Research output: Contribution to journal › Article

Roudgari, H, Farndon, PA, Murray, AD, 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, vol. 82, no. 1, pp. 71-76. https://doi.org/10.1111/j.1399-0004.2011.01725.x
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. Clinical Genetics. 2012 Jul;82(1):71-76. https://doi.org/10.1111/j.1399-0004.2011.01725.x
Roudgari, H ; Farndon, P A ; Murray, A D ; 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. In: Clinical Genetics. 2012 ; Vol. 82, No. 1. pp. 71-76.
@article{5ec1641c72e84a8bbf9f144cda4b87d5,
title = "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",
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.",
keywords = "basal cell carcinoma, Gorlin syndrome, meningocele, mild mental retardation, neural tube defects, nevoid basal cell carcinoma, PTCH gene, spina bifida",
author = "H Roudgari and Farndon, {P A} and Murray, {A D} and C Hardy and Z Miedzybrodzka",
note = "{\circledC} 2011 John Wiley & Sons A/S.",
year = "2012",
month = "7",
doi = "10.1111/j.1399-0004.2011.01725.x",
language = "English",
volume = "82",
pages = "71--76",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "1",

}

TY - JOUR

T1 - Is PATCHED an important candidate gene for neural tube defects?

T2 - Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

AU - Roudgari, H

AU - Farndon, P A

AU - Murray, A D

AU - Hardy, C

AU - Miedzybrodzka, Z

N1 - © 2011 John Wiley & Sons A/S.

PY - 2012/7

Y1 - 2012/7

N2 - 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.

AB - 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.

KW - basal cell carcinoma

KW - Gorlin syndrome

KW - meningocele

KW - mild mental retardation

KW - neural tube defects

KW - nevoid basal cell carcinoma

KW - PTCH gene

KW - spina bifida

U2 - 10.1111/j.1399-0004.2011.01725.x

DO - 10.1111/j.1399-0004.2011.01725.x

M3 - Article

C2 - 21651513

VL - 82

SP - 71

EP - 76

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 1

ER -

Access to Document