AUTHOR=Cao Yang-Jia , Wei Zhe , Zhang Hao , Zhang Zhen-Lin 

TITLE=Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 10 - 2019

YEAR=2019

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2019.00375

DOI=10.3389/fendo.2019.00375

ISSN=1664-2392

ABSTRACT=Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility and is characterized by clinical and genetic heterogeneity. Previous studies showed that the same mutation (c.–14C>T) of the IFITM5 gene is responsible for autosomal dominant OI type V. However, the mutation has a variable expressivity. Clinical heterogeneity has been recognized in OI type 5. In this study, we investigated 13 individuals with molecularly confirmed OI type 5 from 7 Chinese families and explored the genotype-phenotype relationship. Increased callus formation is not observed in all individuals, and several novel clinical features were described: joint contractures (3 individuals) and unexplained hip arthritis (6 individuals). Significant clinical variability was observed even within families. Specific facial features were observed in 6 individuals from 2 families consistent with the facial features associated with OI type 5 reported so far in the literature. Interestingly, we report the process of hypertrophic callus formation in detail for the first time, and in 5 individuals with hyperplastic callus, increased erythrocyte sedimentation rate (ESR) and levels of C-reactive protein (C-RP) were measured, suggestive of inflammatory activation.