Article
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.
Clinical genetics - 1 Dec 2025
Yamaguti Paulo Marcio, Braz Shélida Vasconcelos, Asselin Audrey, Leite André Ferreira, de Lima Caroline Lourenço, de Carvalho Daniel Rocha, Mestrinho Heliana Dantas, Figueiredo Paulo Tadeu, Santos Guilherme, de Aguiar Montenegro Nathalia, Nowwarote Nunthawan, Fournier Benjamin Philippe Jacques, de La Dure-Molla Muriel, Berdal Ariane, de Castro Luiz Claudio Gonçalves, Regattieri Neysa Aparecida Tinoco, Mazzeu Juliana Forte, Isaac Juliane, Acevedo Ana Carolina
Abstract excerpt
This study reports a skeletal disorder marked by facial dysmorphism and a distinct oro-dental phenotype including premaxillary and gingival overgrowth and hypercementosis. Whole-exome sequencing identified a homozygous missense variant in ENPP5 (c.173G>T; p.Gly58Val), affecting a conserved glycine residue predicted to be within a putative active binding site of the ENPP5 protein. In mice, RNA-seq and...
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