Novel DLX3 variant identified in a family with tricho-dento-osseous syndrome
Novel DLX3 variant identified in a family with tricho-dento-osseous syndrome
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DOI：
10.1016/j.archoralbio.2022.105479
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Han Dong（通讯作者）
中科院分区：
文献类型：
--
作者：
Liu Haochen;Wang Yue;Liu Yang;Yu Miao;Zheng Jinglei;Feng Hailan;Liu Yang;Han Dong（通讯作者）
To identify DLX3 variants in a Chinese family with typical clinical manifestations of tricho-dento-osseous syndrome (TDO). Sanger sequencing was performed to detect DLX3 variants in the TDO family. Three-dimensional laser scanning microscopy , bioinformatic and conformational analyses were employed to explore the phenotypic characterization and the functional impact. We identified a novel heterozygous variant in the DLX3 gene (c.534G>C; p.Gln178His). Familial co-segregation verified an autosomal dominant inheritance pattern. Bioinformatic prediction demonstrated the deleterious effects of the variant, and DLX3 structure changes suggested the corresponding functional impairments. We identified a variant in the DLX3 gene in an integrated family of Han nationality for the first time. This study expands the variant spectrum of DLX3 and phenotype spectrum of TDO syndrome. • We analyzed DLX3 variant in a family with tricho-dento-osseous syndrome. • We identified a novel missense variant of DLX3 in affected patients. • This study expands the variant spectrum of DLX3 and phenotype spectrum of TDO syndrome.
