一种新型的骨骼发育不良伴上颌骨增生、牙龈增生和牙充血。

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Paulo Marcio Yamaguti, Shélida Vasconcelos Braz, Audrey Asselin, André Ferreira Leite, Caroline Lourenço de Lima, Daniel Rocha de Carvalho, Heliana Dantas Mestrinho, Paulo Tadeu Figueiredo, Guilherme Santos, Nathalia de Aguiar Montenegro, Nunthawan Nowwarote, Benjamin Philippe Jacques Fournier, Muriel de La Dure-Molla, Ariane Berdal, Luiz Claudio Gonçalves de Castro, Neysa Aparecida Tinoco Regattieri, Juliana Forte Mazzeu, Juliane Isaac, Ana Carolina Acevedo
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引用次数: 0

摘要

本研究报告了一种以面部畸形和独特的口腔-牙齿表型为特征的骨骼疾病,包括上颌前和牙龈过度生长和积血过多。全外显子组测序鉴定出ENPP5纯合错义变异(c.173G>T;p.Gly58Val),影响一个保守的甘氨酸残基,该残基预计位于ENPP5蛋白的一个假定的活性结合位点内。在小鼠中,RNA-seq和免疫荧光证实了Enpp5在上颌和下颌骨、牙周韧带、成牙细胞和成釉细胞的功能性成骨细胞中的表达。RT-qPCR证实了区域特异性表达,与胫骨相比,上颌前-上颌骨中Enpp5的表达更高,表明其功能作用依赖于位点。该报告首次将双等位基因ENPP5变异与一种涉及上颌前发育、骨和骨质生长的新型综合征联系起来,强调了进一步的功能和临床研究的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.

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 immunofluorescence confirmed Enpp5 expression in functional osteoblasts of the maxilla and mandible, periodontal ligament, odontoblasts, and ameloblasts. RT-qPCR confirmed region-specific expression, with higher Enpp5 expression in premaxillary-maxillary bones compared to the tibia, suggesting site-dependent functional roles. This report links, for the first time, a biallelic ENPP5 variant to a novel syndrome involving premaxillary development, bone and cementum growth, highlighting the need for further functional and clinical investigation.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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