Novel <i>FAM83H </i>mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta

Hart, Patricia; Becerik, Sema; Çoğulu, Dilşah; Emingil, Gülnur; Ozdemir-Ozenen, Didem; Han, Sejin; Sulima, P.; Fıratlı, Erhan; Hart, Thomas C.

doi:10.1111/j.1399-0004.2008.01112.x

Cited by 39 publications

(19 citation statements)

References 11 publications

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“…Fam83d, also referred to as spindle protein CHICA [14], is a cell-cycle-regulated spindle component which localizes to the mitotic spindle and is both up regulated and phosphorylated during mitosis. Defects in the gene encoding Fam83h cause autosomal dominant hypocalicified ameliogenesis imperfecta (ADHCAI) [15-19]. Fam83b, c, f, and g are uncharacterized proteins present across vertebrates, while Fam83e is an uncharacterized protein found only in mammals.…”

Section: Discussionmentioning

confidence: 99%

The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g

et al. 2013

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BackgroundMice homozygous for the spontaneous wooly mutation (abbreviated wly) are recognized as early as 3–4 weeks of age by the rough or matted appearance of their coats. Previous genetic analysis has placed wly in a 5.9 Mb interval on Chromosome 11 that contains over 200 known genes. Assignment of wly to one of these genes is needed in order to provide probes that would ultimately facilitate a complete molecular analysis of that gene’s role in the normal and disrupted development of the mammalian integument.ResultsHere, a large intraspecific backcross family was used to genetically map wly to a smaller (0.8 Mb) span on mouse Chromosome 11 that includes fewer than 20 genes. DNA sequencing of the coding regions in two of these candidates known to be expressed in skin has revealed a 955 bp, wly-specific deletion. This deletion, which lies within the coordinates of both Slc5a10 [for solute carrier family 5 (sodium/glucose cotransporter), member 10] and Fam83g (for family with sequence similarity 83, member G), alters the splicing of mutant Fam83g transcripts only, and is predicted to result in a severely truncated (probably non-functional) protein product.ConclusionWe suggest that this mutation in Fam83g is the likely basis of the mouse wooly phenotype.

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Section: Discussionmentioning

confidence: 99%

The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g

et al. 2013

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“…While autosomal dominant forms of AI are present in Turkey, they are not as frequent as ARAI forms. Additionally, autosomal dominant AI in Turkey appears primarily due to FAM83H mutations [Hart et al, 2009], with a far smaller number of cases due to ENAM mutations [Hart et al, 2003a; Kim et al, 2005b; Ozdemir et al, 2005b]. To date only four mutations for KLK4 and MMP20 have been identified in humans and none of these has occurred in the Turkish population [Hart et al, 2004; Kim et al, 2005; Ozdemir et al, 2005a; Papagerakis et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

“…The oligonucleotide primers and the conditions used to amplify and sequence all exons, including intron/exon splice sites for AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20 , and TUFT1 were described previously [Hart et al, 2003a; Hart et al, 2004, 2009; Kim et al, 2005, 2006; Santos et al, 2007]. The PCR products were electrophoresed through 1% agarose gels and the amplicons extracted using GFX™ PCR DNA and Gel Band Purification Kit (GE Healthcare, Piscataway, NJ).…”

Section: Methodsmentioning

confidence: 99%

“…Mutations in the MMP-20 gene have also been described as being associated with autosomal recessive pigmented hypomaturation AI [Kim et al, 2005; Ozdemir et al, 2005a; Papagerakis et al, 2008]. Recently mutations in the FAM83H gene have been identified with autosomal dominant hypoplastic forms of AI in Korea and in Turkey [Hart et al, 2009; Kim et al, 2008; Lee et al, 2008]. …”

Section: Introductionmentioning

confidence: 99%

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Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta

Becerik

Çoğulu

Emingil

et al. 2009

American J of Med Genetics Pt A

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Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2mm and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families.

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“…When both ENAM alleles are defective, the chief complaint typically includes dental pain, particularly thermal sensitivity [7, 12]. Anterior open-bites, which are often associated with tongue-thrust and thumb sucking behaviors, are observed with increased frequency in AI patients, regardless of the genetic etiology, including AI caused by ENAM [6], KLK4 [26], MMP20 [27], FAM83H [28], or AMELX [29] mutations.…”

Section: Introductionmentioning

confidence: 99%

Bodyweight Assessment of Enamelin Null Mice

Chan

Lertlam

Simmer

et al. 2013

BioMed Research International

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The Enam null mice appear to be smaller than wild-type mice, which prompted the hypothesis that enamel defects negatively influence nutritional intake and bodyweight gain (BWG). We compared the BWG of Enam−/− and wild-type mice from birth (D0) to Day 42 (D42). Wild-type (WT) and Enam−/− (N) mice were given either hard chow (HC) or soft chow (SC). Four experimental groups were studied: WTHC, WTSC, NHC, and NSC. The mother's bodyweight (DBW) and the average litter bodyweight (ALBW) were obtained from D0 to D21. After D21, the pups were separated from the mother and provided the same type of food. Litter bodyweights were measured until D42. ALBW was compared at 7-day intervals using one-way ANOVA, while the influence of DBW on ALBW was analyzed by mixed-model analyses. The ALBW of Enam−/− mice maintained on hard chow (NHC) was significantly lower than the two WT groups at D21 and the differences persisted into young adulthood. The ALBW of Enam−/− mice maintained on soft chow (NSC) trended lower, but was not significantly different than that of the WT groups. We conclude that genotype, which affects enamel integrity, and food hardness influence bodyweight gain in postnatal and young adult mice.

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Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta

Cited by 39 publications

References 11 publications

The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g

The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta

Bodyweight Assessment of Enamelin Null Mice

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