Postzygotic mosaicism in basal cell naevus syndrome.

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ID: 96270
2017
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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.
Reference Key
reinders2017postzygoticthe Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Reinders, M G H C;Boersma, H J;Leter, E M;Vreeburg, M;Paulussen, A D C;Arits, A H M M;Roemen, G M J M;Speel, E J M;Steijlen, P M;van Geel, M;Mosterd, K;
Journal the british journal of dermatology
Year 2017
DOI
10.1111/bjd.15082
URL
Keywords
gorlin syndrome basal cell nevus syndrome ptch1 bcns mutation database

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