Brachyolmia

Definition:

Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4).

References:

[1]. Giedre Grigelioniene, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A. 2014 Jul;164A(7):1635-41. [Content Brief]

[2]. M Shohat, et al. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J Med Genet. 1989 Jun;33(2):209-19. [Content Brief]

[3]. Noriko Miyake, et al. PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet. 2012 Aug;49(8):533-8. [Content Brief]

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