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 V. In this study, we investigated 13 individuals with molecularly confirmed OI type V from seven 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 (three individuals) and unexplained hip arthritis (six individuals). Significant clinical variability was observed even within families. Specific facial features were observed in six individuals from two families consistent with the facial features associated with OI type V reported so far in the literature. Interestingly, we report the process of hypertrophic callus formation in detail for the first time, and in five individuals with hyperplastic callus, increased erythrocyte sedimentation rate (ESR) and levels of C-reactive protein (C-RP) were measured, suggestive of inflammatory activation.
journal_name
Front Endocrinol (Lausanne)journal_title
Frontiers in endocrinologyauthors
Cao YJ,Wei Z,Zhang H,Zhang ZLdoi
10.3389/fendo.2019.00375subject
Has Abstractpub_date
2019-06-12 00:00:00pages
375issn
1664-2392journal_volume
10pub_type
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pub_type: 杂志文章,评审
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journal_title:Frontiers in endocrinology
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abstract:INTRODUCTION:Risk of testicular germ cell tumors (TGCT) is consistently associated with a history of cryptorchidism (CO) in epidemiologic studies. Factors modifying the association may provide insights regarding etiology of TGCT and suggest a basis for individualized care of CO. To identify modifiers of the CO-TGCT ass...
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