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COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3

Citace:
HRUŠKOVÁ, L., MAŘÍK, I., MAZUROVÁ, S., MARTÁSEK, P., MAZURA, I. COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3. Advances in Genomics and Genetics, 2015, roč. 5, č. august, s. 275-281. ISSN: 1179-9870
Druh: ČLÁNEK
Jazyk publikace: eng
Anglický název: COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
Rok vydání: 2015
Autoři: Mgr. Lucie Hrušková , Doc. MUDr. Ivo Mařík CSc. , MUDr. Stela Mazurová , prof.MUDr. Pavel Martásek DrSc. , doc.RNDr. Ivan Mazura CSc.
Abstrakt EN: Osteogenesis imperfecta is a heritable bone fragility disease with a heterogenic genetic origin. Most cases result from mutations of either the COL1A1 gene or the COL1A2 gene. We identified a novel COL1A2 gene mutation in a Czech patient, born to unaffected parents, who was diagnosed according to clinical and anthropometric findings and radiographic features as having type 3 osteogenesis imperfecta, which is a severe form of this disease. The identified Gly814Trp mutation was predicted by a number of complementary bioinformatic programs to result in functional alteration of the protein. This case report provides both evidence of a novel COL1A2 mutation resulting in type 3 osteogenesis imperfecta and a genotype:phenotype correlation in this affected individual.
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