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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-12

AUTHORS

M. Altaraihi, K. Wadt, J. Ek, A. M. Gerdes, E. Ostergaard

ABSTRACT

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. More... »

PAGES

10

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-019-0041-2

DOI

http://dx.doi.org/10.1038/s41439-019-0041-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112308256

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30820324


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