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

M Altaraihi; K Wadt; J Ek; A M Gerdes; E Ostergaard

doi:10.1038/s41439-019-0041-2

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

Hum Genome Var. 2019 Feb 22:6:10. doi: 10.1038/s41439-019-0041-2. eCollection 2019.

Authors

M Altaraihi¹, K Wadt¹, J Ek¹, A M Gerdes¹, E Ostergaard¹

Affiliation

¹ Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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.

Publication types

Case Reports