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.

中文翻译：

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一个具有纯合PTCH2移码变体的健康个体：PTCH2的变体是否伴有空洞性基底细胞癌综合征？

已经描述了PTCH2的变体与空巢基底细胞癌综合征（NBCCS）有关。我们报道了一个家庭，其中有一个健康的女性，在PTCH2和她的杂合女儿中，其移码变体c.269delG，p。（Gly90Alafs * 4）是纯合子。该变体预测移码和终止密码子过早。已报告具有种系PTCH2变体的杂合个体的摘要，以及存在健康纯合个体的问题，即PTCH2中的变体是否与NBCCS相关。