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encyclopedia of Rare Disease Annotation for Precision Medicine



  Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder characterized by three-dimensional spinal curvatures, affecting 2%-3% of school age children, yet the causes underlying AIS are not well understood. In Jul 17, 2017, Wenjie Gao and others published an article in << Human Mutation >> which title is“Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis”, conducted a whole-exome sequencing and linkage analysis on a three-generation Chinese family with autosomal-dominant (AD) AIS, and then performed targeted sequencing in a discovery cohort comprising 20 AD AIS families and 86 simplex patients, and finally identified three disease-associated missense variants (c.886G> A, c.1943C> T, and c.1760C> T) in the MAPK7 gene (encoding mitogen-activated protein kinase 7). Taken together, their findings suggest that rare coding variants in MAPK7 predispose to AIS, providing clues to understanding the mechanisms of AIS.

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