PDF(Pubmed)
Abstract：
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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：外胚层发育不良是遗传性疾病，其特征是两个或多个外胚层结构的先天性缺陷，如皮肤，汗腺,头发,指甲,牙齿,和粘膜。
方法：这里，我们描述了在具有EDA基因变异c.742-2A>G的女性患者中明显的寡头症的新观察。
结果：结果强烈提示EDA基因变异c.742-2A>G具有致病性。先证者中的寡头特别严重。
结论：我们证明非常罕见的剪接受体变异体EDAc.742-2A>G与严重的寡头症相关，即使在女性中也是如此。我们的研究指出，这种变异是致病的。早期识别这种变异对于多学科团队及时计划适当的治疗和后续行动至关重要。
方法：这里，我们描述了在具有EDA基因变异c.742-2A>G的女性患者中明显的寡头症的新观察。
结果：结果强烈提示EDA基因变异c.742-2A>G具有致病性。先证者中的寡头特别严重。
结论：我们证明非常罕见的剪接受体变异体EDAc.742-2A>G与严重的寡头症相关，即使在女性中也是如此。我们的研究指出，这种变异是致病的。早期识别这种变异对于多学科团队及时计划适当的治疗和后续行动至关重要。
