SEMD with joint laxity type

Definition:

Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic or Hall type). SEMDJL1 is caused by mutation in the B3GALT6 gene. The individuals with SEMDJL1 show the characteristic vertebral abnormalities, ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. The individuals with SEMDJL2 was identified mutations in KIF22 as the cause of this disease. Its characteristic manifestation includes short stature, midface hypoplasia, generalized ligamentous laxity causing mild kyphoscoliosis and progressive genu valgum.

References:

[1]. Belinda Campos-Xavier, et al. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. Am J Med Genet A. 2018 Dec;176(12):2934-2935. [Content Brief]

[2]. Byung-Joo Min, et al. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. Am J Hum Genet. 2011 Dec 9;89(6):760-6. [Content Brief]

[3]. Gen Nishimura, et al. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. Am J Med Genet A. 2003 Mar 1;117A(2):147-53. [Content Brief]

[4]. Katta Mohan Girisha, et al. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. Eur J Hum Genet. 2016 Aug;24(8):1206-10. [Content Brief]

[5]. Masahiro Nakajima, et al. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet. 2013 Jun 6;92(6):927-34. [Content Brief]

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