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Morphological analyses and a novel de novo DLX 3 mutation associated with tricho–dento–osseous syndrome in a C hinese family
Author(s) -
Li Yue,
Han Dong,
Zhang Hao,
Liu Haochen,
Wong Singwai,
Zhao Na,
Qiu Lixin,
Feng Hailan
Publication year - 2015
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/eos.12197
Subject(s) - enamel paint , enamel hypoplasia , anatomy , confocal laser scanning microscope , microstomia , missense mutation , biology , amelogenesis imperfecta , mutation , dentistry , pathology , medicine , gene , genetics , biomedical engineering
Tricho–dento–osseous ( TDO ) syndrome, an autosomal‐dominant disorder, affects the morphological appearance of the tooth enamel, hair, and bone. Previous studies have confirmed that mutations in the DLX 3 gene are responsible for TDO . In this study, we describe a C hinese patient with the typical traits of TDO – kinky hair, enamel hypoplasia, skull and jaw bones thickening, and sclerosis. Unfortunately, as a result of excessive attrition, we were unable to assess taurodontism. Examination of the tooth ground section showed a thin layer of enamel with no rods on the patient's tooth and abnormalities in T omes' granular layer and the dentinal tubules. Scanning electron microscopy and energy‐dispersive X ‐ray spectroscopy of the tooth enamel showed significant differences between the patient and the control individuals. A hair sample from the patient observed under a laser‐scanning microscope showed longitudinal grooves in the hair shaft. Dual‐energy X ‐ray absorptiometry measurement showed that the bone mineral density values of the patient's bones was much higher than normal. Finally, genetic analysis revealed a novel de novo missense mutation c.533 A > G (p. Q 178 R ) in the conserved homeodomain of the DLX 3 gene. This DLX 3 mutation is the sixth causative mutation for TDO to be identified so far.