Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
作者信息
Anderson I J, Tsipouras P, Scher C, Ramesar R S, Martell R W, Beighton P
机构信息
Department of Pediatrics, University of Connecticut Health Center, Farmington.
出版信息
Am J Med Genet. 1990 Oct;37(2):272-6. doi: 10.1002/ajmg.1320370223.
PMID:1978986
Abstract
A mild autosomal dominant form of spondyloepiphyseal dysplasia (SED) is present in several generations of a South African family of English stock. This phenotype differs from that of any other previously described. Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen. It is evident that the SED group of disorders is heterogeneous.
摘要
相似文献
1
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
Am J Med Genet. 1990 Oct;37(2):272-6. doi: 10.1002/ajmg.1320370223.
2
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.
Am J Med Genet. 1994 Dec 1;53(4):348-51. doi: 10.1002/ajmg.1320530408.
3
Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).
Am J Med Genet. 1992 Jul 15;43(5):833-8. doi: 10.1002/ajmg.1320430516.
4
Achondroplasia is not caused by mutation in the gene for type II collagen.软骨发育不全不是由II型胶原蛋白基因的突变引起的。
Am J Med Genet. 1988 Apr;29(4):955-61. doi: 10.1002/ajmg.1320290433.
5
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).先天性脊椎骨骺发育不良：与II型胶原蛋白（COL2AI）的基因连锁。
Am J Hum Genet. 1990 May;46(5):896-901.
6
Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.轻度脊椎骨骺发育不良（纳马夸兰型）：与II型胶原基因COL2A1的遗传连锁关系。
Am J Hum Genet. 1991 Mar;48(3):518-24.
7
Segregation of structural collagen genes in adolescent idiopathic scoliosis.青少年特发性脊柱侧凸中结构胶原基因的分离
Clin Orthop Relat Res. 1992 Jan(274):305-10.
8
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.由于II型前胶原基因（COL2A1）点突变导致的常染色体显性脊椎关节病。
Hum Mutat. 1994;4(4):257-62. doi: 10.1002/humu.1380040405.
9
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.COL2A1基因第12外显子的可变剪接在脊柱骨骺发育不良的Kniest型中中断了II型胶原的三螺旋结构。
J Orthop Res. 1996 Sep;14(5):712-21. doi: 10.1002/jor.1100140506.
10
A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.COL2A1基因的首个家族性G504S突变导致了独特的先天性脊柱骨骺发育不良。
Clin Chim Acta. 2007 Jul;382(1-2):148-50. doi: 10.1016/j.cca.2007.04.005. Epub 2007 Apr 14.
引用本文的文献
1
Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.ACAN 基因突变患者的基因型与表型：三例病例并文献复习。
Mol Genet Genomic Med. 2024 Apr;12(4):e2439. doi: 10.1002/mgg3.2439.
2
Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.蛋白聚糖功能障碍：椎间盘退变与骨骼发育异常之间的共同联系。
Neurospine. 2024 Mar;21(1):162-178. doi: 10.14245/ns.2347342.671. Epub 2024 Mar 31.
3
Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.与聚集蛋白聚糖相关的骨疾病；一种与脊椎骨骺发育异常相关的新型杂合ACAN变异体，扩展了表型谱并文献综述
J Genet Eng Biotechnol. 2024 Mar;22(1):100341. doi: 10.1016/j.jgeb.2023.100341. Epub 2024 Jan 30.
4
Growth plate extracellular matrix defects and short stature in children.儿童生长板细胞外基质缺陷与身材矮小
Ann Pediatr Endocrinol Metab. 2022 Dec;27(4):247-255. doi: 10.6065/apem.2244120.060. Epub 2022 Dec 31.
5
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature.一名骨龄超前的15岁身材矮小男孩中杂合性ACAN突变的鉴定：病例报告及文献复习
Ann Pediatr Endocrinol Metab. 2020 Dec;25(4):272-276. doi: 10.6065/apem.1938198.099. Epub 2020 Jul 29.
6
Cartilage diseases.软骨疾病。
Matrix Biol. 2018 Oct;71-72:51-69. doi: 10.1016/j.matbio.2018.05.005. Epub 2018 May 24.
7
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation.非家族性身材矮小和无骨骼成熟加速的身材矮小中的聚集蛋白聚糖突变
J Endocr Soc. 2017 Jun 28;1(8):1006-1011. doi: 10.1210/js.2017-00229. eCollection 2017 Aug 1.
8
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.基因筛查证实 ACAN 中的杂合突变是特发性身材矮小的主要原因。
Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6.
9
mutations as a cause of familial short stature.作为家族性身材矮小原因的突变。
Clin Pediatr Endocrinol. 2017;26(3):119-125. doi: 10.1297/cpe.26.119. Epub 2017 Jul 27.
10
The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.聚集蛋白聚糖病；人类遗传性骨骼疾病不断演变的表型谱。
Orphanet J Rare Dis. 2016 Jun 28;11(1):86. doi: 10.1186/s13023-016-0459-2.
Zotero 插件