Objectives Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition (1:750,000 live births). HGF can be transmitted as an autosomal dominant trait or recessive inheritance and, to date, 4 loci and 2 genes (REST and SOS1) have been described. Here, we report the molecular and genetic characteristics from 4 unrelated families with HGF. Study Design All experiments were carried out with the approval of the Research Ethics Committee (#535091.16.4). DNA was extracted from the peripheral blood of 10 individuals with HGF of the 4 families mentioned. Then, genetic sequencing of all family members was performed. Results Whole-exome sequencing revealed 4 different mutations including 2 frameshifts and 2 missense variants in CD36, REST, SOS1, and ALK genes. In the first family the c.1133G>T mutation in CD36 was found; in the second family, a deletion in REST (c.1491_1492delAG); in the third, an insertion in the c.3265 position in SOS1; and in the last family, the missense mutation (c.361C>T) in anaplastic lymphoma kinase. Conclusions Together, these results suggest a pattern of heterogeneity in the inheritance and mutation patterns in each Brazilian family affected by HGF. Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition (1:750,000 live births). HGF can be transmitted as an autosomal dominant trait or recessive inheritance and, to date, 4 loci and 2 genes (REST and SOS1) have been described. Here, we report the molecular and genetic characteristics from 4 unrelated families with HGF. All experiments were carried out with the approval of the Research Ethics Committee (#535091.16.4). DNA was extracted from the peripheral blood of 10 individuals with HGF of the 4 families mentioned. Then, genetic sequencing of all family members was performed. Whole-exome sequencing revealed 4 different mutations including 2 frameshifts and 2 missense variants in CD36, REST, SOS1, and ALK genes. In the first family the c.1133G>T mutation in CD36 was found; in the second family, a deletion in REST (c.1491_1492delAG); in the third, an insertion in the c.3265 position in SOS1; and in the last family, the missense mutation (c.361C>T) in anaplastic lymphoma kinase. Together, these results suggest a pattern of heterogeneity in the inheritance and mutation patterns in each Brazilian family affected by HGF.
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