Nail-Patella Syndrome: A Case Study

Decent Essays
Nail-patella syndrome is an autosomal dominant condition (Sweeney 2003)
Inherited developmental disorder (Vollrath 1998)
Caused by mutations of the LMX1B gene
LMX1B is haploinsufficient, only possessing 1 functional copy
Due to gene variation and partial or complete deletions of LMX1B (Ghoumid 2016)
LMX1B is a LIM-homeodomain gene (Vollrath 2003)
Works as a transcription factor, important for development of limbs (Sweeney 2003)
Mutations of LMX1B may also be responsible for:
Renal problems including proteinuria and kidney failure
Development of glaucoma
Neurological problems
Gastrointestinal issues such as IBS
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