title: Postzygotic mosaicism in basal cell naevus syndrome.
abstract: Basal cell naevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the Drosophila homologue of patched-1 gene (PTCH1). Here we describe a patient with clinical signs of BCNS, caused by postzygotic mosaicism of a PTCH1 mutation. We performed restriction fragment length polymorphism analysis and Droplet Digital polymerase chain reaction to determine the degree of mosaicism in different tissues of this patient. Our case shows that a relatively low-grade mosaicism can lead to clinical signs reminiscent of those caused by a germline mutation. This finding has important implications for genetic counselling and therefore is pivotal to recognize for dermatologists, as well as for clinical geneticists and clinical laboratory geneticists.
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands.|GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: M G H C
authors.initials: MGHC
authors.lastname: Reinders
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: Boersma
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: E M
authors.initials: EM
authors.lastname: Leter
authors.affiliation: Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Vreeburg
authors.affiliation: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.|Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: A D C
authors.initials: ADC
authors.lastname: Paulussen
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands.|GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: A H M M
authors.initials: AHMM
authors.lastname: Arits
authors.affiliation: Department of Pathology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: G M J M
authors.initials: GMJM
authors.lastname: Roemen
authors.affiliation: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.|Department of Pathology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: E J M
authors.initials: EJM
authors.lastname: Speel
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands.|GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands.|GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.|Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: van Geel
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands.|GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: K
authors.initials: K
authors.lastname: Mosterd
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D000072081:Patched-1 Receptor / Q000235:genetics*; D055815:Young Adult
chemical_list: C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor