title: Molecular evidence of type 2 mosaicism in Gorlin syndrome.
abstract: We present a 12-year-old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single-base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait.
authors.affiliation: Department of Dermatology , Hospital del Niño Jesús, Menendez Pelayo 65, Madrid, 28034, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Torrelo
authors.forename: A
authors.initials: A
authors.lastname: Hernández-Martín
authors.forename: E
authors.initials: E
authors.lastname: Bueno
authors.forename: I
authors.initials: I
authors.lastname: Colmenero
authors.forename: I
authors.initials: I
authors.lastname: Rivera
authors.forename: L
authors.initials: L
authors.lastname: Requena
authors.forename: R
authors.initials: R
authors.lastname: Happle
authors.forename: R
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009030:Mosaicism; D020125:Mutation, Missense / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface