ArticlePloS one2012
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 40 citations in OpenAlex.
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- Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.Journal of pediatric genetics · 2020Article
- Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- AMELX Gene Association with Dental Caries in Iranian Adults.International journal of molecular and cellular medicine · 2019Article
- Enamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6Molecular genetics & genomic medicine · 2016Article
- Inhibitory effects of Arhgap6 on cervical carcinoma cells.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Sequence-Defined Energetic Shifts Control the Disassembly Kinetics and Microstructure of Amelogenin Adsorbed onto Hydroxyapatite (100).Langmuir : the ACS journal of surfaces and colloids · 2015Article
- Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.Iranian journal of public health · 2014Article
- Clinical findings and long-term managements of patients with amelogenesis imperfecta.European journal of dentistry · 2014Article
- Kallikrein-related peptidase-4 (KLK4): role in enamel formation and revelations from ablated mice.Frontiers in physiology · 2014Review
- Dental enamel development: proteinases and their enamel matrix substrates.ISRN dentistry · 2013Review
- Effects of Fam83h overexpression on enamel and dentine formation.Archives of oral biology · 2013Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) is a group of inherited conditions featuring isolated enamel malformations. About 5% of AI cases show an X-linked pattern of inheritance, which are caused by mutations in AMELX. In humans there are two, non-allelic amelogenin genes: AMELX (Xp22.3) and AMELY (Yp11.2). About 90% of amelogenin expression is from AMELX, which is nested within intron 1 of the gene encoding Rho GTPase activating protein 6 (ARHGAP6). We recruited two AI families and determined that their disease-causing mutations were partial deletions in ARHGAP6 that completely deleted AMELX. Affected males in both families had a distinctive enamel phenotype resembling "snow-capped" teeth. The 96,240 bp deletion in family 1 was confined to intron 1 of ARHGAP6 (g.302534_398773del96240), but removed alternative ARHGAP6 promoters 1c and 1d. Analyses of developing teeth in mice showed that ARHGAP6 is not expressed from these promoters in ameloblasts. The 52,654 bp deletion in family 2 (g.363924_416577del52654insA) removed ARHGAP6 promoter 1d and exon 2, precluding normal expression of ARHGAP6. The male proband of family 2 had slightly thinner enamel with greater surface roughness, but exhibited the same pattern of enamel malformations characteristic of males in family 1, which themselves showed minor variations in their enamel phenotypes. We conclude that the enamel defects in both families were caused by amelogenin insufficiency, that deletion of AMELX results in males with a characteristic snow-capped enamel phenotype, and failed ARHGAP6 expression did not appreciably alter the severity of enamel defects when AMELX was absent.
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