Novel DLX3 variant identified in a family with tricho-dento-osseous syndrome

Autor:	Haochen Liu, Yue Wang, Hangbo Liu, Miao Yu, Jinglei Zheng, Hailan Feng, Yang Liu, Dong Han
Rok vydání:	2022
Předmět:	Craniofacial Abnormalities Homeodomain Proteins Otorhinolaryngology Humans Dental Enamel Hypoplasia Cell Biology General Medicine Hair Diseases General Dentistry Pedigree Transcription Factors
Zdroj:	Archives of oral biology. 141
ISSN:	1879-1506
Popis:	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.534GC; 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4db5df7c8110e1cc1c8dc7e1e33f495 https://pubmed.ncbi.nlm.nih.gov/35714441 Zobrazit plný text záznamu Full Text from ScienceDirect