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Postzygotic mosaicism in basal cell naevus syndrome
Author(s) -
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.,
Geel M.,
Mosterd K.
Publication year - 2017
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.15082
Subject(s) - germline mosaicism , biology , germline , genetics , germline mutation , patched , ptch1 , mutation , basal cell nevus syndrome , gene , basal cell carcinoma , pathology , basal cell , medicine , hedgehog signaling pathway
Summary 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 ( PTCH 1 ). Here we describe a patient with clinical signs of BCNS , caused by postzygotic mosaicism of a PTCH 1 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.