A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3
| Autor: | Simone Pizzi, Daniela Rogaia, Amedea Mencarelli, Giuseppe Merla, Maria Giovanna Tedesco, Valentina Imperatore, Alessandro Bruselles, Elisabetta Flex, Giuseppe Di Cara, Marco Tartaglia, Andrea Ciolfi, Stefania Troiani, Alberto Verrotti, Paolo Prontera, Giovanna Carpentieri |
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| Přispěvatelé: | Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
Adolescent Consanguinity Biology QH426-470 whole exome sequencing Pathogenesis Genotype-phenotype distinction consanguinity Rare Disease Latent TGF-beta Binding Protein Peru medicine Genetics Amelogenesis imperfecta Osteochondrodysplasia Genetics (clinical) Exome sequencing Coxa valga amelogenesis imperfecta medicine.disease Pedigree LTBP3 Hypodontia stomatognathic diseases Phenotype Dysplasia brachyolmia medicine.symptom Human |
| Zdroj: | Genes, Vol 12, Iss 1406, p 1406 (2021) |
| ISSN: | 2073-4425 |
| Popis: | In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β binding protein 3 (LTBP3) gene have been found implicated in the pathogenesis of this disorder. So far, biallelic pathogenic LTBP3 variants have been identified in less than 10 families. We here report a young boy born from consanguineous parents with a complex phenotype including skeletal dysplasia associated with aortic stenosis, hypertrophic cardiomyopathy, hypodontia and amelogenesis imperfecta caused by a previously unreported homozygous LTBP3 splice site variant. We also compare the genotypes and phenotypes of patients reported to date. This work provides further evidence that brachyolmia with amelogenesis imperfecta is a distinct nosologic entity and that variations in LTBP3 are involved in its pathogenesis. |
| Databáze: | OpenAIRE |
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