Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome.

The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA) Pub Date : 2024-03-28 DOI:10.3290/j.cjdr.b5128601

Hai Tang Yue, Hai Yan Cao, Miao He

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Abstract

Objective: To analyse the aetiology and pathogenesis of Gorlin-Goltz syndrome (GS; also known as nevoid basal cell carcinoma syndrome [NBCCS] or basal cell nevus syndrome [BCNS]) in a Chinese family.

Methods: Whole-exome sequencing (WES) was performed on genomic DNA samples from the subjects in a family, followed by the investigation of pathogenesis via bioinformatic approaches and conformational analysis.

Results: A novel heterozygous non-frameshift deletion patched 1 (PTCH1) [NM_000264: c.3512_3526del (p.1171_1176del)] was identified by WES and further validated by Sanger sequencing. Bioinformatic and conformational analysis showed that the mutation caused altered PTCH1 protein structure, which may be related to functional abnormalities.

Conclusion: This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.

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新型 PTCH1 基因突变导致戈林-戈尔茨综合征。

目的分析一个中国家族的戈林-戈尔茨综合征（Gorlin-Goltz syndrome，又称痣样基底细胞癌综合征[NBCCS]或基底细胞痣综合征[BCNS]）的病因和发病机制：方法：对一个家族中受试者的基因组 DNA 样本进行全外显子测序（WES），然后通过生物信息学方法和构象分析研究发病机制：结果：通过全基因组测序（WES）发现了一个新的杂合性非帧移缺失斑块 1（PTCH1）[NM_000264: c.3512_3526del (p.1171_1176del)]，并通过桑格测序进一步验证。生物信息学和构象分析显示，该突变导致 PTCH1 蛋白结构改变，可能与功能异常有关：结论：本研究扩大了PTCH1在GS中的突变谱，有助于GS的早期诊断和筛查。PTCH1[c.3512_3526del (p.1171_1176del)]可能导致结构异常和功能障碍，从而导致家族性 GS。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)

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