Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Dent Res. 2009 Apr;88(4):356-60. doi: 10.1177/0022034509333822.

Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

Author information

  • 1Dept. of Pediatric Dentistry, School of Dentistry, CB #7450 Brauer Hall, UNC Chapel Hill, NC 27599, USA. tim_wright@dentistry.unc.edu

Abstract

FAM83H gene mutations are associated with autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically characterized by enamel having normal thickness and a markedly decreased mineral content. This study tested the hypothesis that there are phenotype and genotype associations in families with FAM83H-associated ADHCAI. Seven families segregating ADHCAI (147 individuals) were evaluated. Phenotyping included clinical, radiographic, histological, and biochemical studies, and genotyping was by mutational analysis. Multiple novel FAM83H mutations were identified, including two 2-bp-deletion mutations, the first non-nonsense mutations identified. Craniofacial deviation from normal was more prevalent in the affected individuals. Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized ADHCAI phenotype, 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. This investigation shows that unique phenotypes are associated with specific FAM83H mutations.

PMID:
19407157
[PubMed - indexed for MEDLINE]
PMCID:
PMC2754853
Free PMC Article

Images from this publication.See all images (2)Free text

Figure 1.
Figure 2.
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk