Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition characterized by slow but progressive fibrous, non-hemorrhagic, and painless growth of the gingival tissues due to the increased deposition of collagen and other macromolecules of the extracellular matrix. HGF occurs in approximately 1:750,000 individuals and can exhibit dominant or recessive inheritance. To date, five loci (2p21-p22, 2p22.3-p23.3, 4q12, 5q13-q22, and 11p15) and three genes [REST (RE1-silencing transcription factor), SOS1 (Son-of-Sevenless-1), and ZNF862 (zinc finger protein 862 gene)] have been associated with HGF. Here, our study aimed to identify genetic variants associated with HGF by applying whole-exome sequencing (WES) and bioinformatics analyses.

中文翻译：

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遗传异质性导致遗传性牙龈纤维瘤病的新证据和 ALK 和 CD36 作为新的候选基因

遗传性牙龈纤维瘤病 (HGF) 是一种罕见的遗传病，其特征是由于细胞外基质的胶原蛋白和其他大分子沉积增加，牙龈组织缓慢但进行性纤维化、非出血性和无痛性生长。HGF 发生在大约 1:750,000 的个体中，并且可以表现出显性或隐性遗传。迄今为止，五个位点（2p21-p22、2p22.3-p23.3、4q12、5q13-q22 和 11p15）和三个基因 [ REST（RE1 沉默转录因子）、SOS1（Son-of-Sevenless-1） , 和ZNF862（锌指蛋白 862 基因）] 与 HGF 相关。在这里，我们的研究旨在通过应用全外显子组测序 (WES) 和生物信息学分析来识别与 HGF 相关的遗传变异。