Novel frameshift mutations in <i>DSPP</i> cause dentin dysplasia type II

Lee, Ji Won; Hong, Jiwon; Seymen, Figen; Kim, Youn Jung; Kang, Juhye; Koruyucu, Mine; Tüloğlu, Nuray; Bayrak, Şule; Song, Ji‐Soo; Shin, Teo Jeon; Hyun, Hong‐Keun; Kim, Young‐Jae; Lee, Jae‐Cheoun; Park, Joocheol; Hu, Jan C.‐C.; Simmer, James P.; Kim, Jung Wook

doi:10.1111/odi.13182

Cited by 8 publications

(13 citation statements)

References 10 publications

(12 reference statements)

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“…Based on our cases, the individual III-3 presented a unique X-shaped root canal phenotype for DD-II in the mixed dentition, as well as general phenotypes such as attrited primary teeth with discoloration, obliterated pulp cavities, and newly erupted permanent teeth with nearly normal appearance (Figure 1). We found a previous report also presented a DD-II case with similar X-shaped root canal in immature permanent teeth (figure 1c from Lee et al, 2019). Although the authors might neglect and not proposed this important phenotype at that time, that case still provided the supporting evidence for our finding.…”

Section: Clinic Al and R Adiolog Ic Al Char Ac Teris Tic Ssupporting

confidence: 77%

“…Although the authors might neglect and not proposed this important phenotype at that time, that case still provided the supporting evidence for our finding. In the Figure S2, we cited the panoramic radiograph of a DD-II patient at the age of 10 years (Lee et al, 2019). This kind of X-shaped root canal is quite different from the root canal shape in normal individuals, which indicates that abnormal mineral deposition in DD-II permanent teeth could be initiated from the middle of the root canals.…”

Section: Clinic Al and R Adiolog Ic Al Char Ac Teris Tic Smentioning

confidence: 99%

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A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies

et al. 2023

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The present study aims to investigate the mutation in a Chinese family with dentin dysplasia type II (DD‐II) and to summarize mutation hotspots, clinical manifestations, and disease management strategies. Phenotype analysis, clinical intervention, mutation screening, and cosegregation analysis within the enrolled family were performed. A summary of the reported mutations in the dentin phosphoprotein (DPP) region of dentin sialophosphoprotein (DSPP) was analyzed. Pathogenicity prediction analysis of the physical properties and function of DSPP variants was performed by bioinformatic processing. Clinical management strategies are discussed. A novel pathogenic mutation (c.2035delA) in the DPP region of DSPP was identified, which was cosegregated in the family. The immature permanent teeth of patients with DD‐II presented with X‐shaped root canal phenotypes. Most of the identified mutations for DD‐II were clustered in the DPP region between nucleotides 1686–2134. Points of differential diagnosis, clinical interventions, and management strategies are proposed. This study revealed a novel DSPP frameshift mutation and presented new clinical features of DD‐II. The locus involving nucleotides 1686–2134 of DSPP may represent a mutational hotspot for the disease. Appropriate management of DD‐II at different stages is important to avoid the development of secondary dental lesions.

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Section: Clinic Al and R Adiolog Ic Al Char Ac Teris Tic Ssupporting

confidence: 77%

Section: Clinic Al and R Adiolog Ic Al Char Ac Teris Tic Smentioning

confidence: 99%

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies

et al. 2023

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“…Further differential diagnoses are posed with diseases that have radiological and/or clinical signs similar to DD-I, including the different types of dentinogenesis imperfecta and with the following conditions causing premature tooth loss: Kostmann syndrome; cyclic neutropenia; Chediak–Hegashi syndrome; cell histiocytosis Langerhans syndrome; Papillon–Lefèvre syndrome; hypophosphatasia; and vitamin D-resistant rickets [ 6 , 7 , 11 , 13 , 15 , 16 , 17 ]. DD-I is caused by the upregulation or downregulation of many genes involved in odontogenesis (Dspp, Dmp1, Runx2, Pax9, Bmp2, Dlx2, vPS4B, Ssuh2, and SMOC2) [ 13 , 14 , 15 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. The most documented forms of DD-I are those related to the mutation of the Dspp gene (4q21.3), which encodes dentin sialophosphoprotein, a precursor of dentin sialoprotein and dentin phosphoprotein, which are involved in dentinogenesis [ 18 , 19 , 20 , 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

“…DD-I is caused by the upregulation or downregulation of many genes involved in odontogenesis (Dspp, Dmp1, Runx2, Pax9, Bmp2, Dlx2, vPS4B, Ssuh2, and SMOC2) [ 13 , 14 , 15 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ]. The most documented forms of DD-I are those related to the mutation of the Dspp gene (4q21.3), which encodes dentin sialophosphoprotein, a precursor of dentin sialoprotein and dentin phosphoprotein, which are involved in dentinogenesis [ 18 , 19 , 20 , 21 , 22 ]. The diagnosis of DD-I is essentially based on the evidence collected in radiological investigations such as orthopantomography (abnormal roots, pulp obliteration, partially obliterated crescent-shaped pulp chamber, and, rarely, pulp stones).…”

Section: Introductionmentioning

confidence: 99%

“…DD-I is inherited in an autosomal dominant or, more rarely, recessive manner. A person with the disease has a 50% chance that his children will inherit the disease [ 10 , 11 , 14 , 20 , 24 ]. The age of the patient at the time of diagnosis greatly influences the dental prognosis; however, the severity of dysplasia does not always allow for planning a conservative approach despite an early diagnosis [ 6 , 7 , 9 , 13 , 19 , 24 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

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Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis

Putrino,

Caputo,

Galeotti

et al. 2023

Medicina

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Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. Case Presentation: This case report describes the oral and radiographic characteristics of two siblings, 12 and 10 years old, a male and a female, at an early age affected by DD-I, whose diagnosis was made for a first orthodontic visit. The father and the older child had already undergone dental and orthodontic treatments, respectively, without the disease being suspected by the dentist. Results: Genetic tests support the diagnosis of DD-I. Following the diagnosis, the patients began a process of close periodic checks every 3–4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.

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