PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “AMELOGENESIS IMPERFECTA”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed2005

ENAM mutations in autosomal-dominant amelogenesis imperfecta.

To date, 4 unique enamelin gene (ENAM) defects have been identified in kindreds with amelogenesis imperfecta. To improve our understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, we have identified 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel (g.4806A>C, IVS6-2A>C) and 1 previously identified (g.8344delG), and have characterized the resulting enamel phenotypes. The IVS6-2A>C mutation caused a severe enamel phenotype in the proband, exhibiting horizontal grooves of severely hypoplastic enamel. The affected mother had several shallow hypoplastic horizontal grooves in the lower anterior teeth. In the case of the g.8344delG mutation, the phenotype was generalized hypoplastic enamel with shallow horizontal grooves in the middle 1/3 of the anterior teeth. In general, mutations in the human enamelin gene cause hypoplastic enamel, often with horizontal grooves, but the severity of the enamel defects is variable, even among individuals with the same mutation.

Adult↗
PubMed1988

Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county.

The clinical manifestations of amelogenesis imperfecta (AI) were described in 165 individuals from 51 families. The inheritance pattern for AI in these families had previously been investigated, and it was hypothesized that AI probably is solely an autosomal dominant (AD) or X-linked trait. To test this hypothesis the connection between clinical manifestation and inheritance pattern was studied. Eight different variants of AI were seen. In 33/51 families all affected individuals could be assigned to the same clinical variant. In 8/51 families those affected were assigned to different clinical variants. In the two families where an X-linked recessive (XR) inheritance pattern was found probable, the clinical manifestation differed between women and men. Except for one variant only seen as an AD trait, and the manifestation in women in families with an X-linked recessive inheritance pattern, no connection was found between a specific inheritance pattern and a specific clinical manifestation. Accordingly it seems likely that AI is solely an AD or X-linked trait. The different clinical variants observed should be regarded as a varying expressivity of the gene and in the families with X-linked inheritance probably due to lyonization. In the remaining families the modifying mechanisms are not known.

Adolescent↗
PubMed1988

Investigation of the aetiopathogenesis of amelogenesis imperfecta through microscopic, submicroscopic and cytogenetic methods--a case report.

A case of hypomineralized type of amelogenesis imperfecta has been evaluated by using microscopic, submicroscopic and cytogenetic techniques. It has been observed that some of the enamel contained hydroxyapatite crystals and showed normal mineralization, but some others consisted of transparent, crystal plates of octacalcium phosphate, revealing that these enamel prisms have hypomature characteristics. Extra chromosomes which belong to D-autosomes were found in the culture obtained from the peripheral blood of the patient, suggesting that the patient has 15% hyperdiploids. It is suggested that the structural disorders in some of the enamel prisms resulted from alterations in the environmental conditions related to chromosome anomalies.

Adult↗
PubMed2002

Molecular analysis for genetic counselling in amelogenesis imperfecta.

OBJECTIVE: To use molecular genetics to establish the mode of inheritance in a family with amelogenesis imperfecta. MATERIALS AND METHODS: The polymerase chain reaction was used to amplify exons of the amelogenin gene on the short arm of the X chromosome. RESULTS: A single base deletion mutation in exon 6 of the amelogenin gene was identified. This mutation was a single base deletion of a cytosine residue - 431delC - in codon 96 of exon 6, introducing a stop codon 30 codons downstream of the mutation in codon 126 of the exon. CONCLUSION: The firm establishment of an X-linked mode of inheritance affects the genetic counselling for this family.

Amelogenesis Imperfecta↗
PubMed2003

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13.3), TUFT1 (1q21), MMP20 (11q22.3-q23), and KLK4 (19q13). Genotype data were evaluated to identify homozygosity in affected individuals. Mutational analysis was by genomic sequencing. Homozygosity linkage studies were consistent for localisation of an AI locus in three families to the chromosome 4q region containing the ENAM gene. ENAM sequence analysis in families identified a 2 bp insertion mutation that introduced a premature stop codon in exon 10. All three probands were homozygous for the same g.13185_13186insAG mutation. These probands presented with a generalised hypoplastic AI phenotype and a class II openbite malocclusion. All heterozygous carriers of the g.13185_13186insAG mutation had localised hypoplastic enamel pitting defects, but none had AI or openbite. The phenotype associated with the g.13185_13186insAG ENAM mutation is dose dependent such that ARAI with openbite malocclusion segregates as a recessive trait, and enamel pitting as a dominant trait.

Amelogenesis Imperfecta↗
PubMed1975

Alopecia totalis, nail dysplasia and amelogenesis imperfecta.

A patient with Turner XO/XX mosaicism is presented who also exhibits alopecia totalis, nail dysplasia and amelogenesis imperfecta. This combination has not been previously reported. What relationship the clinical manifestations have to the chromosome status is also unknown.

Adult↗
PubMed1991

Amelogenesis imperfecta: early interception to prevent attrition.

Early recognition and action are essential elements in the management of amelogenesis imperfecta. The authors describe how a combination of prompt clinical action and preventive care were used to minimize the chances of decay and wear to the permanent dentition of a young patient suffering from this condition.

Amelogenesis Imperfecta↗
PubMed1992

Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta.

Exfoliated primary teeth from a boy and a girl from a family with X-linked amelogenesis imperfecta (XAI) were studied by scanning electron microscopy. Teeth from the boy featured multiple shallow depressions on the enamel surface interspersed with deeper tubular voids. Shallow depressions and similar tubular defects were also apparent in control teeth from an unaffected individual but these were less frequent, irregularly distributed and less marked. Teeth from the heterozygous girl had broad furrows running longitudinally from the cusp(s) of the tooth cervically. These furrows were formed by a series of saucerized depressions which merged together in some areas. The bases of these depressions featured tubular voids extending into the enamel. These similar voids in teeth from both boy and girl probably represent enamel prism spaces vacant because of defective enamel protein synthesis and/or mineralization. Although the scanning electron microscopic features of teeth from females observed in this and previous studies of XAI differ, the enamel appears to be more similar in males with differing clinical XAI phenotypes.

Amelogenesis Imperfecta↗
PubMed1979

Amelogenesis imperfecta: local hypoplastic type with pulpal calcification.

A case report of a patient with local hypoplastic type of amelogenesis imperfecta is presented. Developmentally absent canines and unerupted teeth in the anterior maxilla and calcifications in the apical third of the pulp chambers of the molars were noticed and discussed. A family history was analyzed as consistent with an autosomal dominant form of transmission of the disorder.

Adult↗
PubMed1985

Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism.

We describe a brother and sister with amelogenesis imperfecta, nephrocalcinosis and impaired renal concentrating ability. This is the second sibship reported, further substantiating autosomal recessive inheritance of this condition. There is lack of enamel, lifelong nocturnal enuresis, progressive punctate nephrocalcinosis, and decreased calcium and phosphate excretion over 24 hours and after an acute load. Increased serum osteocalcin and decreased urine delta-carboxyglutamic acid suggest involvement of vitamin K-dependent calcium binding proteins, although this may represent a secondary finding. No other evidence of abnormal calcium metabolism was found. Renal function is stable in the early teens, but the previously reported patients went on to renal failure.

1-Carboxyglutamic Acid↗
PubMedDate not supplied

Rehabilitation of young patients with amelogenesis imperfecta: a report of two cases.

This paper presents a method for the rehabilitation of young patients with amelogenesis imperfecta, illustrated by two cases. The method comprises a temporary phase and a transitory phase. The aim of the temporary phase, which involves the use of temporary resin and NiCr crowns during primary or mixed dentition, is to reestablish the esthetic, occlusal and masticatory features of the child's dentition. It must respect the integrity of the pulp so as not to compromise the development of the dentition, and must be capable of adapting to any changes occurring during development. The transitory phase, which is undertaken on the permanent teeth, ensures an esthetic quality that lasts until adulthood. It entails the use of laboratory designed composite prostheses.

Amelogenesis Imperfecta↗
PubMed2002

Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism.

This paper describes the clinical features of a family of four generations with autosomal dominant amelogenesis imperfecta with taurodontism (ADAIT). Considerable variation in phenotype was seen, both between individuals and within the dentition of some individuals. Many of the adults had received extensive dental restorative work. These findings re-enforce previous observations of variable phenotype in this and other forms of the condition and add to the argument for a revision of methods of classification. This history of this large family draws further attention to the restorative demands of this group of dental anomalies and, by their generous co-operation, will prove an invaluable help in the investigation by molecular genetic techniques of this disfiguring condition.

Adolescent↗
PubMedDate not supplied

[Clinico-therapeutic considerations in a serious case of amelogenesis imperfecta].

The Authors present a case of a young female patient affected with a serious hypoplasic form of Amelogenesis Imperfecta, involving all the teeth which has been completely restabilished using composite resin. The therapy used has been developed thanks to the chemical-physical qualities of last generation of composites, which allow the compete reconstruction of teeth. Such a therapy has not to be considered definitive, however it has been used as a temporary solution, waiting for final prosthetic rehabilitation. The Authors estimate that such a temporary long term treatment, that utilize composite resins, represent the ideal therapeutical choice thanks to its characteristics of endurance, cost and benefice. In our opinion this therapy prevents tooth deterioration, secures a better mastication, a partial reduction of the teeth sensibility, facilitates teeth cleaning and solves the esthetical problems with great psychological advantage.

Amelogenesis Imperfecta↗
PubMed2004

Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta.

PURPOSE: The purpose of this study was to characterize the phenotype in 9 families with autosomal recessive amelogenesis imperfecta (ARAI), and to propose a classification system allowing inclusion and delineation of diverse ARAI phenotypes. STUDY DESIGN: Nine families with ARAI were evaluated clinically and radiographically. Exfoliated and extracted teeth were examined via light and scanning electron microscopy, with the enamel in one case evaluated by amino acid analysis. RESULTS: The 9 families demonstrated diverse ARAI phenotypes including localized hypoplastic, generalized thin hypoplastic, hypocalcified and hypomaturation AI types. CONCLUSIONS: Some ARAI phenotypes observed in this study and reported in the literature cannot be classified using currently accepted ARAI nomenclature. Therefore, we propose a revised nomenclature permitting both classification of all ARAI clinical forms and inclusion of anticipated molecular-based nomenclature, such as now exists for some X-linked and autosomal dominant AI subtypes.

Amelogenesis Imperfecta↗