A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
| Autor: | Nursel Elcioglu, Ayca Dilruba Aslanger, Burcu Yeter, Gozde Yesil |
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| Přispěvatelé: | Yeter, Burcu, Dilruba Aslanger, Ayca, Yesil, Gözde, Elcioglu, Nursel H. |
| Rok vydání: | 2022 |
| Předmět: |
musculoskeletal diseases
Joint hypermobility Genetics Mutation Dentinogenesis imperfecta business.industry Endocrinology Diabetes and Metabolism rare disease Hypochondroplasia skeletal dysplasia medicine.disease medicine.disease_cause Compound heterozygosity Short stature Endocrinology Dysplasia Odontochondrodysplasia Pediatrics Perinatology and Child Health medicine TRIP11 Achondroplasia medicine.symptom business dentinogenesis imperfecta |
| Zdroj: | Journal of Clinical Research in Pediatric Endocrinology. 14:475-480 |
| ISSN: | 1308-5735 1308-5727 |
| DOI: | 10.4274/jcrpe.galenos.2021.2021.0099 |
| Popis: | Odontochondrodysplasia (ODCD, OMIM #184260) is a quite rare non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. ODCD is inherited in an autosomal recessive fashion with an unknown frequency caused by mutations of the thyroid hormone receptor interactor 11 gene (TRIP11; OMIM *604505). TRIP11 gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), which is an indispensable protein for the function of the Golgi apparatus. Mutations of the TRIP11 gene also cause achondrogenesis type 1A (ACG1A). Null mutations of TRIP11 lead to ACG1A, also known as a lethal skeletal dysplasia, while hypomorphic mutations cause ODCD. Here we report a male child diagnosed as ODCD with a novel compound heterozygote mutation who presented with skeletal changes, short stature, dentinogenesis imperfecta, and facial dysmorphism resembling Achondroplasia (ACH) and Hypochondroplasia (HCH). |
| Databáze: | OpenAIRE |
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