| H01494 | |
| H番号 | H01494 |
| 名称 | 脊椎骨端骨幹端異形成-関節弛緩 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734] (SEMDJL2) KIF22 [HSA:3835] [KO:K10403] (SEMDJL3) EXOC6B [HSA:23233] [KO:K19985] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C562968 OMIM: 271640 603546 618395 |
| 文献 | PMID:23664117 著者 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 タイトル Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 雑誌 Am J Hum Genet 92:927-34 (2013) DOI:10.1016/j.ajhg.2013.04.003 PMID:12567412 著者 Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S タイトル Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. 雑誌 Am J Med Genet A 117A:147-53 (2003) DOI:10.1002/ajmg.a.10927 PMID:22152677 著者 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 タイトル Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 雑誌 Am J Hum Genet 89:760-6 (2011) DOI:10.1016/j.ajhg.2011.10.015 PMID:30284759 著者 Campos-Xavier B, Rogers RC, Niel-Butschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A タイトル Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. 雑誌 Am J Med Genet A 176:2934-2935 (2018) DOI:10.1002/ajmg.a.40631 PMID:26669664 著者 Girisha KM, Kortum F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K タイトル A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 雑誌 Eur J Hum Genet 24:1206-10 (2016) DOI:10.1038/ejhg.2015.261 |