Case report of dentinogenesis imperfecta and review of literature

doi:10.7518/hxkq.2025.2025068

Abstract

Abstract:

Dentinogenesis imperfecta is a dentin development disorder inherited in an autosomal dominant manner. It is rarely seen in clinical with a low incidence rate. We reported a case of dentinogenesis imperfecta referred to the Department of Pediatric Dentistry, Hospital of Stomatology, Lanzhou University. Investigation of the four-generation pedigree of the proband and review of relevant literature indicated that dentinogenesis imperfecta equally affects both genders and involves deciduous and permanent teeth with a high familial prevalence. By analyzing the clinical manifestations of dentinogenesis imperfecta and exploring early management strategies, this case study aims to enhance dentists’ understan-ding and management of this condition to improve patients’ quality of life.

Key words: dentinogenesis imperfecta, autosomal dominant inheritance, dentin development disorder

CLC Number:

R781.2

Song Jing’e, Nan Yan, Zhang Rui. Case report of dentinogenesis imperfecta and review of literature[J]. West China Journal of Stomatology, 2025, 43(4): 530-533.

Figures/Tables 2

References 24

[1]	宋亚玲, 边专. 基因突变与牙体硬组织发育异常[J]. 中华口腔医学杂志, 2020, 55(5): 316-322.
	Song YL, Bian Z. Gene mutations and disorders of dental hard tissues[J]. Chin J Stomatol, 2020, 55(5): 316-322.
[2]	Mohan KR, Narayanan M, Ravikumar PT. Dentinogenesis imperfecta type 2: a case report [J]. Gen Dent, 2021, 69(6): 74-76.
[3]	Du Q, Cao L, Liu Y, et al. Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields typeⅡ with a novel DSPP mutation[J]. Ann Transl Med, 2021, 9(22): 1672.
[4]	Barron MJ, McDonnell ST, Mackie I, et al. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia[J]. Orphanet J Rare Dis, 2008, 3: 31.
[5]	Chen D, Li X, Lu F, et al. Dentin dysplasia typeⅠ—A dental disease with genetic heterogeneity[J]. Oral Dis, 2019, 25(2): 439-446.
[6]	Martín-Vacas A, de Nova MJ, Sagastizabal B, et al. Morphological study of dental structure in dentinogenesis imperfecta typeⅠwith scanning electron microscopy[J]. Healthcare (Basel), 2022, 10(8): 1453.
[7]	Jia J, Bian Z, Song Y. The role of DSPP in dentine formation and hereditary dentine defects[J]. Chin J Dent Res, 2024, 27(1): 17-28.
[8]	Simmer JP, Zhang H, Moon SJH, et al. The modified shields classification and 12 families with defined DSPP mutations[J]. Genes (Basel), 2022, 13(5): 858.
[9]	de La Dure-Molla M, Philippe Fournier B, Berdal A. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification[J]. Eur J Hum Genet, 2015, 23(4): 445-451.
[10]	Liang T, Smith CE, Hu Y, et al. Dentin defects caused by a DSPP-1 frameshift mutation are associated with the activation of autophagy[J]. Sci Rep, 2023, 13(1): 6393.
[11]	Liu MM, Li WT, Xia XM, et al. Dentine sialophosphoprotein signal in dentineogenesis and dentine regeneration[J]. Eur Cell Mater, 2021, 42: 43-62.
[12]	Suzuki S, Sreenath T, Haruyama N, et al. Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization[J]. Matrix Biol, 2009, 28(4): 221-229.
[13]	Du Q, Cao L, Yan N, et al. Identification of DSPP no-vel variants and phenotype analysis in dentinogenesis dysplasia Shields type Ⅱ patients[J]. Clin Oral Investig, 2023, 27(7): 3885-3894.
[14]	Mao J, Wang L, Jiang Y, et al. Nanoscopic wear behavior of dentinogenesis imperfecta type Ⅱ tooth dentin[J]. J Mech Behav Biomed Mater, 2021, 120: 104585.
[15]	Turkkahraman H, Galindo F, Tulu US, et al. A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta typeⅡphenotype[J]. Connect Tissue Res, 2020, 61(6): 526-536.
[16]	Taleb K, Lauridsen E, Daugaard-Jensen J, et al. Dentinogenesis imperfecta type Ⅱ-genotype and phenotype ana-lyses in three Danish families[J]. Mol Genet Genomic Med, 2018, 6(3): 339-349.
[17]	Zhang Z, Huang G, Huang Y, et al. Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mi-neralization[J]. Arch Oral Biol, 2023, 151: 105701.
[18]	Sabel N, Norén JG, Robertson A, et al. X-ray microanalysis of dentine in primary teeth diagnosed Dentinogenesis Imperfecta typeⅡ[J]. Eur Arch Paediatr Dent, 2020, 21(4): 527-535.
[19]	韩安鹏, 鲁方丽, 陆玉平, 等. Micro-CT对遗传性牙本质发育缺陷离体患牙的特征研究[J]. 华西口腔医学杂志, 2022, 40(2): 162-168.
	Han AP, Lu FL, Lu YP, et al. Micro-CT study on isola-ted teeth with hereditary dentin defects[J]. West China J Stomatol, 2022, 40(2): 162-168.
[20]	Soliman S, Meyer-Marcotty P, Hahn B, et al. Treatment of an adolescent patient with dentinogenesis imperfecta using indirect composite restorations—A case report and literature review[J]. J Adhes Dent, 2018, 20(4): 345-354.
[21]	Alrashdi M, Schoener J, Contreras CI, et al. Full mouth rehabilitation of two siblings with dentinogenesis imperfecta type Ⅱ using different treatment modalities[J]. Int J Environ Res Public Health, 2020, 17(19): 7029.
[22]	Xue Q, Wu Z, Zhao Y, et al. Progress in the pathoge-nic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies[J]. Front Cell Dev Biol, 2024, 12: 1474966.
[23]	Zhang Y, Jin X, Zhang Z, et al. A novel approach to full-mouth rehabilitation of dentinogenesis imperfecta type Ⅱ: case series with review of literature[J]. Medicine (Baltimore), 2024, 103(4): e36882.
[24]	Beltrame AP, Rosa MM, Noschang RA, et al. Early rehabilitation of incisors with dentinogenesis imperfecta type Ⅱ—Case report[J]. J Clin Pediatr Dent, 2017, 41(2): 112-115.