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A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS.

OriginalsprogEngelsk
Artikelnummer10
TidsskriftHuman Genome Variation
Vol/bind6
Udgave nummer1
DOI
StatusUdgivet - 2019

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