因 EDA 剪接受体变异 c.742-2A>G 导致的外胚层发育不全女性患者严重牙齿畸形的新观察。
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.
机构信息
Institute of Biomedicine, University of Turku, Turku, Finland.
Department of Oral Pathology and Radiology, Faculty of Medicine, University of Turku, Turku, Finland.
出版信息
Mol Genet Genomic Med. 2023 Dec;11(12):e2275. doi: 10.1002/mgg3.2275. Epub 2023 Sep 4.
BACKGROUND
Ectodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes.
METHOD
Here, we describe a new observation of significant oligodontia in a female patient with the EDA gene variant c.742-2A>G.
RESULTS
The results strongly suggest that the EDA gene variant c.742-2A>G is pathogenic. The oligodontia in the proband was exceptionally severe.
CONCLUSION
We demonstrate that the very rare splice acceptor variant EDA c.742-2A>G is associated with severe oligodontia even in females. Our study points that this variant is pathogenic. An early identification of this variant is crucial for planning adequate treatment and follow-up in time by a multidisciplinary team.
背景
外胚层发育不全是一种遗传性疾病，其特征是皮肤、汗腺、毛发、指甲、牙齿和粘膜等两个或多个外胚层结构的先天性缺陷。
方法
在这里，我们描述了一名女性患者 EDA 基因突变 c.742-2A>G 导致的显著少牙症的新观察结果。
结果
结果强烈提示 EDA 基因突变 c.742-2A>G 是致病的。先证者的少牙症异常严重。
结论
我们证明了这种非常罕见的剪接受体变异 EDA c.742-2A>G 即使在女性中也与严重的少牙症相关。我们的研究表明该变体是致病的。通过多学科团队尽早识别该变体对于及时计划适当的治疗和随访至关重要。
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