De potentiële link tussen schizofrenie en het nagel-patellasyndroom: casusbespreking en literatuuroverzicht

Possible link between schizophrenia and Nail-Patella Syndrome: review of the literature illustrated by a case report Nail-patella syndrome (NPS) is a genetic disorder causing multiple abnormalities such as those affecting the joints, nails and kidneys. A loss-of-function mutation in the LIM homeobox transcription factor 1 beta (LMX1B) gene was found responsible for the disorder. Despite animal studies suggesting a potential association between LMX1B and psychiatric disorders, little research has been conducted in humans. A literature search yielded only 9 articles with human data. This article presents a review of the existing literature, illustrated by a case report of a 16-year-old adolescent male with concomitant schizophrenia and NPS. Our case report aligns with previous findings where a higher prevalence of psychiatric disorders within patients with NPS was suggested. However, more targeted research with larger patient samples is needed to confirm these findings and to further investigate the neurological and psychiatric consequences of LMX1B mutations. This may contribute to a better understanding about the genetic factors in schizophrenia.