An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i>
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the <i>AMELX</i> gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated fami...
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MDPI AG
2022-07-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/7/1272 |
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| author | Tina Leban Katarina Trebušak Podkrajšek Jernej Kovač Aleš Fidler Alenka Pavlič |
| author_facet | Tina Leban Katarina Trebušak Podkrajšek Jernej Kovač Aleš Fidler Alenka Pavlič |
| author_sort | Tina Leban |
| collection | DOAJ |
| description | Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the <i>AMELX</i> gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar clinical and radiographic findings. All three probands were carefully selected from 40 patients with AI. In probands from both families, scanning electron microscopy confirmed hypoplastic and hypomineralised enamel. A neonatal line separated prenatally and postnatally formed enamel of distinctly different mineralisation qualities. In both families, whole exome analysis revealed the intron variant NM_182680.1: c.103-3T>C, located three nucleotides before exon 4 of the <i>AMELX</i> gene. In family I, an additional variant, c.2363G>A, was found in exon 5 of the <i>FAM83H</i> gene. This report illustrates a variant in the <i>AMELX</i> gene that was not previously reported to be causative for AI as well as an additional variant in the <i>FAM83H</i> gene with probably limited clinical significance. |
| first_indexed | 2024-03-09T10:18:13Z |
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| id | doaj.art-53ea7a58daf04fb88bed3535d62f9b70 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T10:18:13Z |
| publishDate | 2022-07-01 |
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| spelling | doaj.art-53ea7a58daf04fb88bed3535d62f9b702023-12-01T22:11:57ZengMDPI AGGenes2073-44252022-07-01137127210.3390/genes13071272An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i>Tina Leban0Katarina Trebušak Podkrajšek1Jernej Kovač2Aleš Fidler3Alenka Pavlič4Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaInstitute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaClinical Institute of Special Laboratory Diagnostic, University Childrens Hospital, 1000 Ljubljana, SloveniaDepartment of Endodontics, Medical Faculty, University of Ljubljana, 1000 Ljubljana, SloveniaDepartment of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, SloveniaAmelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the <i>AMELX</i> gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar clinical and radiographic findings. All three probands were carefully selected from 40 patients with AI. In probands from both families, scanning electron microscopy confirmed hypoplastic and hypomineralised enamel. A neonatal line separated prenatally and postnatally formed enamel of distinctly different mineralisation qualities. In both families, whole exome analysis revealed the intron variant NM_182680.1: c.103-3T>C, located three nucleotides before exon 4 of the <i>AMELX</i> gene. In family I, an additional variant, c.2363G>A, was found in exon 5 of the <i>FAM83H</i> gene. This report illustrates a variant in the <i>AMELX</i> gene that was not previously reported to be causative for AI as well as an additional variant in the <i>FAM83H</i> gene with probably limited clinical significance.https://www.mdpi.com/2073-4425/13/7/1272dental enamelamelogenesis imperfectaX-linkedexome analysisintron variantultrastructure |
| spellingShingle | Tina Leban Katarina Trebušak Podkrajšek Jernej Kovač Aleš Fidler Alenka Pavlič An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i> Genes dental enamel amelogenesis imperfecta X-linked exome analysis intron variant ultrastructure |
| title | An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i> |
| title_full | An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i> |
| title_fullStr | An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i> |
| title_full_unstemmed | An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i> |
| title_short | An Intron c.103-3T>C Variant of the <i>AMELX</i> Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: <i>Case Series and Review of the Literature</i> |
| title_sort | intron c 103 3t c variant of the i amelx i gene causes combined hypomineralized and hypoplastic type of amelogenesis imperfecta i case series and review of the literature i |
| topic | dental enamel amelogenesis imperfecta X-linked exome analysis intron variant ultrastructure |
| url | https://www.mdpi.com/2073-4425/13/7/1272 |
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