Skeletal dysplasia with joint laxity and advanced bone age

Definition:

Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis of sulfated glycosaminoglycans chondroitin and dermatan sulfate.

References:

[1]. R Meyer, et al. Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. Bone. 2019 Oct;127:446-451. [Content Brief]

[2]. Shuji Mizumoto, et al. CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Hum Mutat. 2020 Mar;41(3):655-667. [Content Brief]

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