A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
A healthy individual with a homozygous PTCH2 frameshift variant : Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? / Altaraihi, M.; Wadt, K.; Ek, J.; Gerdes, A. M.; Ostergaard, E.
I: Human Genome Variation, Bind 6, Nr. 1, 10, 2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - A healthy individual with a homozygous PTCH2 frameshift variant
T2 - Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
AU - Altaraihi, M.
AU - Wadt, K.
AU - Ek, J.
AU - Gerdes, A. M.
AU - Ostergaard, E.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
U2 - 10.1038/s41439-019-0041-2
DO - 10.1038/s41439-019-0041-2
M3 - Journal article
C2 - 30820324
AN - SCOPUS:85069297013
VL - 6
JO - Human Genome Variation
JF - Human Genome Variation
SN - 2054-345X
IS - 1
M1 - 10
ER -
ID: 240631730