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一个新家族中的DLX3突变及其表型变异。

DLX3 mutation in a new family and its phenotypic variations.

作者信息

Lee S-K, Lee Z H, Lee S-J, Ahn B-D, Kim Y-J, Lee S-H, Kim J-W

机构信息

Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea.

出版信息

J Dent Res. 2008 Apr;87(4):354-7. doi: 10.1177/154405910808700402.

Abstract

Tricho-dento-osseous syndrome (TDO) is an autosomal-dominant disease characterized by curly hair at birth, enamel hypoplasia, taurodontism, and a thick cortical bone. A common DLX3 gene mutation (c.571_574delGGGG) has been identified in multiple families with variable clinical phenotypes. Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). We identified a Korean family with overlapping phenotypes of TDO and AIHHT. We performed mutational analysis to discover its genetic etiology. The identified mutation was c.561_562delCT mutation in the DLX3 gene. The enamel was hypomature and hypoplastic. The characteristic taurodontic features were not identified. Increased bone density or thickness could not be revealed by cephalometric, hand-wrist, and panoramic radiographs. Affected individuals reported that their nails were brittle, and they had curly hair at birth. This study clearly showed that the c.561_562delCT mutation had not only enamel defects, but also other clinical phenotypes resembling those of TDO syndrome.

摘要

毛发-牙齿-骨综合征(TDO)是一种常染色体显性疾病,其特征为出生时头发卷曲、牙釉质发育不全、牛牙症以及皮质骨增厚。在多个具有不同临床表型的家族中已鉴定出常见的DLX3基因突变(c.571_574delGGGG)。最近,据报道另一种DLX3基因突变(c.561_562delCT)会导致伴有牛牙症的牙釉质发育不全(AIHHT)。我们鉴定出一个具有TDO和AIHHT重叠表型的韩裔家族。我们进行了突变分析以发现其遗传病因。所鉴定出的突变是DLX3基因中的c.561_562delCT突变。牙釉质成熟不足且发育不全。未发现典型的牛牙症特征。头颅侧位片、手腕部X线片和全景X线片均未显示骨密度或厚度增加。受影响个体报告称他们指甲易碎,且出生时头发卷曲。这项研究清楚地表明,c.561_562delCT突变不仅会导致牙釉质缺陷,还会导致其他类似于TDO综合征的临床表型。

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