Spondyloepimetaphyseal dysplasia

Definition:

Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia.

References:

[1]. Adetutu T Egunsola, et al. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. J Clin Invest. 2017 Apr 3;127(4):1475-1484. [Content Brief]

[2]. Ann M Kennedy, et al. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). J Clin Invest. 2005 Oct;115(10):2832-42. [Content Brief]

[3]. Cedric Le Caignec, et al. RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):1040-1047. [Content Brief]

[4]. Clara D M van Karnebeek, et al. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nat Genet. 2016 Jul;48(7):777-84. [Content Brief]

[5]. Fabiana Csukasi, et al. The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. Sci Transl Med. 2018 Sep 19;10(459):eaat9356. [Content Brief]

[6]. G E Tiller, et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87-9. [Content Brief]

[7]. H Mierzewska, et al. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. Clin Genet. 2017 Jan;91(1):30-37. [Content Brief]

[8]. Lindsay C Burrage, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 Mar 7;104(3):422-438. [Content Brief]

[9]. M Di Rocco, et al. Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. Clin Genet. 2018 Mar;93(3):671-674. [Content Brief]

[10]. Maha Faden, et al. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Am J Hum Genet. 2015 Oct 1;97(4):608-15. [Content Brief]

[11]. Stuart W Tompson, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet. 2009 Jan;84(1):72-9. [Content Brief]

[12]. Sung Yoon Cho, et al. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. [Content Brief]

[13]. Valérie Cormier-Daire, et al. Spondylo-epi-metaphyseal dysplasia. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. [Content Brief]

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