The chemical composition of tooth enamel in junctional epidermolysis bullosa

Kirkham, Jennifer; Robinson, C.; Strafford, S.; Shore, R.C.; Bonass, William A.; Brookes, Steven J.; Wright, J. Timothy

doi:10.1016/s0003-9969(00)00003-0

Cited by 37 publications

(33 citation statements)

References 30 publications

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“…These features are likely genetically determined, but the numbers of genes and the identification of the specific genes responsible are unknown. Alterations of enamel-such as increased enamel porosity, decreased mineral content, and structural alterations of enamel crystals-are reported for syndromic diseases, and responsible genes are known in many cases (Kirkham et al, 2000;Ravassipour et al, 2000;Wright et al, 2003). However, these tend to be inherited as simple Mendelian conditions that cause major disruption of enamel and have profound clinical pathology.…”

Section: Discussionmentioning

confidence: 99%

Longitudinal Analysis of Heritability for Dental Caries Traits

et al. 2005

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The role of genetic and environmental factors on dental caries progression in young children was determined. A detailed caries assessment was performed in 2 examinations on 314 pairs of twins initially 1.5 to 8 years old. Surface-based caries prevalence rates (SBCPR) and lesion severity (LSI) were computed. Heritability estimates were calculated by SOLAR software. Analyses were performed on all ages combined and by age group (1.5-< 4; 4–6; > 6). Overall heritability estimates (H) of net increments SBCPRs were H = 30.0 (p < 0.0001), and were greatest for the youngest (H = 30.0) and oldest groups (H = 46.3). Overall LSI heritability estimates [H = 36.1 (p < 0.0001)] were also greatest for the youngest (H = 51.2) and oldest groups (H = 50.6). Similar findings were found for net increments of occlusal surfaces and deep dentinal lesions SBCPRs (H = 46.4–56.2). These findings are consistent with a significant genetic contribution to dental caries progression and severity in both emerging primary and permanent dentitions.

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Section: Discussionmentioning

confidence: 99%

Longitudinal Analysis of Heritability for Dental Caries Traits

et al. 2005

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“…[7][8][9][10] Similarly, oral hard tissues may show either a marked developmentally compromised enamel or minor structural defects with areas of surface pitting and furrowing. [11][12][13][14][15] Although until now no consensus statement on EB severity score has been established, two reports have been published aimed at developing an EB scoring system. 16,17 These attempted to develop a method of scoring EB severity but evaluated too many variables (eg, skin, height, weight, mucous membranes, nutritional status, cancer) and gave little, if any, weight to the oropharyngeal component.…”

mentioning

confidence: 99%

Epidermolysis Bullosa Oropharyngeal Severity (EBOS) score: A multicenter development and reliability assessment

Fortuna

Chainani‐Wu

Lozada‐Nur

et al. 2013

Journal of the American Academy of Dermatology

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“…In teeth, a single allele defect in the α chain in null mutation carriers is enough to disrupt ameloblast-coordinated replacement of basement membrane macromolecules causing enamel pitting. 4 The mechanism by which the heterozygous functional null mutations in LAMA3 result in disease appears to be haploinsufficiency, as we suggested before. 5 In skin, keratinocyte adhesion is redundantly regulated, and if LM-332 is half dose, it is most likely sufficiently compensated for by other epidermal proteins, such as integrins.…”

Section: Discussionmentioning

confidence: 75%

“…2 Enamel in JEB is thin, hypoplastic and contains a 20% lower mineral content than that of healthy individuals. 3,4 Recently, we reported that heterozygous carriers of loss of function (null) mutations in LAMA3 exhibit dental abnormalities without skin symptoms. 5 Carriers exhibited localized enamel pitting and hypoplasia of secondary dentition.…”

Section: Introductionmentioning

confidence: 99%

Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency

Gostyńska¹,

Yuen²,

Pasmooij³

et al. 2016

Eur J Hum Genet

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The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or other JEB symptoms. Here, we report two new LAMA3 functional null mutations: nonsense c.2377C4T p.(Arg793Ter) and splice-site c.4684+1G4A mutation in heterozygous carriers exhibiting enamel pitting. Both parents had offspring affected with JEB and displayed subtle enamel pitting of secondary dentition without any sign of skin blistering. The reported enamel abnormality in LAMA3 mutation carriers could be attributed to a half dose effect of the laminin α3 chain (haploinsufficiency).

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The chemical composition of tooth enamel in junctional epidermolysis bullosa

Cited by 37 publications

References 30 publications

Longitudinal Analysis of Heritability for Dental Caries Traits

Longitudinal Analysis of Heritability for Dental Caries Traits

Epidermolysis Bullosa Oropharyngeal Severity (EBOS) score: A multicenter development and reliability assessment

Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency

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