Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis
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DOI：
10.1016/j.ejmg.2008.06.002
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发表时间：
2008-11-01
影响因子：
1.9
通讯作者：
Song, Shujuan
中科院分区：
文献类型：
--
作者：
Han, Dong;Gong, Yu;Song, Shujuan
家族性非综合征性牙齿发育不全表现出广泛的表型异质性，并以常染色体显性、常染色体隐性或 X 连锁模式遗传。基因 PAX9、MSX1 和 AXIN2 的突变已被确定与常染色体显性牙齿发育不全有关。最近对两个家庭的研究表明，X 连锁非综合征性牙齿发育不全是由 EDA 突变引起的。在这项研究中，发现了一种新的 EDA 突变 (Thr338Met)，该突变会导致中国家庭中的 X 连锁非综合征性牙齿发育不全。使用 EDA、MSX1 和 PAX9 牙齿发育不全的比较统计分析，对这些具有明确 EDA 突变的相关受试者的牙齿发育不全模式进行分析。在八个位置观察到统计学显着差异（p < 0.001）。由此产生的数据显示，上颌和下颌中切牙、侧切牙和犬齿先天性缺失，并且上颌和下颌第一恒磨牙很可能持续存在，表现为牙齿发育不全的模式，表明存在 EDA 突变。 (C) 2008 Elsevier Masson SAS。版权所有。
Familial non-syndromic hypodontia shows a wide phenotypic heterogeneity and inherits in an autosomal-dominant, autosomal-recessive or X-linked mode. Mutations in genes PAX9, MSX1 and AXIN2 have been determined to be associated with autosomal-dominant tooth agenesis. Recent studies in two families showed that X-linked non-syndromic hypodontia resulted from EDA mutations. In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified. The patterns of tooth agenesis in these related subjects with defined EDA mutation were analyzed using comparative statistical analysis of tooth agenesis in EDA, MSX1 and PAX9. Statistically significant differences (p < 0.001) were observed at eight positions. The resulting data of congenital absence of maxillary and mandibular central incisors, lateral incisors and canines, with the high possibility of persistence of maxillary and mandibular first permanent molars, appears as a pattern of tooth agenesis, suggesting the presence of an EDA mutation. (C) 2008 Elsevier Masson SAS. All rights reserved.