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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01494 SEMD with joint laxity type
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
nt06029 Glycosaminoglycan biosynthesis
H01494 SEMD with joint laxity type
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S
Title
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ
Title
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
