Naslov
Molecular genetics analysis of osteogenesis imperfecta in clinical practice

Autori
Stubbe, Annika ; Primorac, Dragan ; Hoppner, Wolfgang

Izvornik
Paediatria Croatica (1846-405X) 61 (2017), 3; 141-145

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
osteogenesis imperfecta ; molecular genetics - analysis

Sažetak
Osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, representing a continuum ranging from perinatal lethality through individuals with severe skeletal deformities to nearly asymptomatic individuals with mild predisposition to fractures. Diagnosis of OI is an interdisciplinary task based on family and/or patient history of fractures combined with characteristic physical fi ndings. Radiographic examination reveals fractures of varying ages and stages of healing, wormian bones, and osteopenia. As there is no defi nitive test for OI, molecular genetic testing by next generation sequencing (NGS) of COL1A1 and COL1A2 and up to 12 other genes is essential to confi rm the genetic background. Therefore, we designed a NGS gene panel comprising 12 genes involved in OI or severe osteoporosis. Here we report results in a cohort of 11 apparently sporadic young patients with OI, all off spring of unaff ected parents, who were referred to orthopaedic surgery at Sv. Katarina Special Hospital (Zabok/Zagreb, Croatia). Ten of these 11 patients could be classifi ed genetically. Overall, three genes with diff erent percent relating to the whole cohort were involved: COL1A1 (63.6%), COL1A2 (18.18%) and WNT1 (9.09%).

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA