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?

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

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

14 Citationer (Scopus)

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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.

Originalsprog	Engelsk
Artikelnummer	10
Tidsskrift	Human Genome Variation
Vol/bind	6
Udgave nummer	1
DOI	https://doi.org/10.1038/s41439-019-0041-2
Status	Udgivet - 2019

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10.1038/s41439-019-0041-2Licens: CC BY

Data Report Open Access Published: 22 February 2019 A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?Forlagets udgivne version, 446 KBLicens: CC BY

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

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.",

author = "M. Altaraihi and K. Wadt and J. Ek and Gerdes, {A. M.} and E. Ostergaard",

year = "2019",

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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

SN - 2054-345X

VL - 6

JO - Human Genome Variation

JF - Human Genome Variation

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ER -