• Corpus ID: 207856718

imperfecta in a Danish five-gen Limited phenotypic variation of hypocalcified amelogenesis eration family with a novel FAM 83 H nonsense mutation

@inproceedings{Haubek2011imperfectaIA,
  title={imperfecta in a Danish five-gen Limited phenotypic variation of hypocalcified amelogenesis eration family with a novel FAM 83 H nonsense mutation},
  author={Dorte Haubek and Hans Gj{\o}rup and Lillian G. Jensen and Inger Juncker and Mette Nyegaard and Anders Dupont B{\o}rglum and Sven Poulsen and Jens Michael Hertz},
  year={2011}
}
DORTE HAUBEK, HANS GJØRUP, LILLIAN G. JENSEN, INGER JUNCKER, METTE NYEGAARD, ANDERS D. BØRGLUM, SVEN POULSEN & JENS M. HERTZ Department of Pediatric Dentistry, School of Dentistry, Faculty of Health Sciences, Aarhus University, Aarhus, Denmark, Center for Oral Health in Rare Medical Conditions, Aarhus University Hospital, Aarhus, Denmark, Department of Clinical Genetics, Aarhus University Hospital, Skejby, Denmark, Department of Human Genetics, Faculty of Health Sciences, Aarhus University… 
auh.dk

References

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FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta
TLDR
This study evaluated eight Turkish kindreds with autosomal dominant hypocalcified AI (ADHCAI) and identified FAM83H nonsense mutations in all eight families, consistent with genetic linkage to chromosome 8q24.3 in seven families.
Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta
TLDR
Investigation shows that unique phenotypes are associated with specific FAM83H mutations, while those having mutations capable of producing a protein of at least 694 amino acids had a unique and previously unreported phenotype affecting primarily the cervical enamel.
Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
TLDR
A novel nonsense mutation was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel, while the underlying dentine was as hard as the normal control.
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
TLDR
A genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI was performed and a novel locus to 8q24.3 was mapped, and no causative mutation was identified.
Amelogenesis imperfecta – a systematic literature review of associated dental and oro-facial abnormalities and their impact on patients
TLDR
A number of aberrations associated with AI have been reported, but not sufficiently systematic to allow for a secondary analysis and synthesis of the findings, and the impact on patients in terms of reduced quality of life and economic burden needs to be studied.
Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load
Objective. The purpose of this study was to report on the clinical, radiographic, and histological dental findings and the resulting treatment load in a five-generation family with amelogenesis…
Taurodontism: an anomaly of teeth reflecting disruptive developmental homeostasis.
TLDR
This study investigates a single morphometric trait, taurodontism, as it occurs in otherwise normal individuals, in nonchromosomal syndromes, and in aneuploidy Syndromes to determine whether the trait best fits the oligogene or the disrupted developmental homeostasis model.