Children with vesico-ureteric reflux have joint hypermobility and occasional TNXB sequence variants.

CONCLUSIONS: We observed a high prevalence of VUR and joint hypermobility in children followed within a tertiary care pediatric urology clinic. While mutations in TNXB have been reported in families with VUR and joint hypermobility, we identified only two children with these phenotypes and pathogenic variants in TNXB. We, therefore, speculate that VUR and joint hypermobility may be due to mutations in other extracellular matrix genes.
PMID: 31702543 [PubMed - as supplied by publisher]

Source: Canadian Urological Association Journal - November 4, 2019 Category: Urology & Nephrology Authors: Tokhmafshan F, El Andalousi J, Murugapoopathy V, Fillion ML, Campillo S, Capolicchio JP, Jednak R, El Sherbiny M, Turpin S, Schalkwijk J, Matsumoto KI, Brophy PD, Gbadegesin RA, Gupta IR Tags: Can Urol Assoc J Source Type: research