Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

Anderson, Ilse J.; Tsipouras, Petros; Scher, Carron; Ramesar, Raj; Martell, R. W.; Beighton, Peter

doi:10.1002/ajmg.1320370223

Cited by 38 publications

(32 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This disorder is characterized by proportionate short stature (below the fifth percentile for age), with a stocky habitus and progressive osteoarthropathy of the weight-bearing joints. 24 In summary, we examined genome-wide scan data from 8842 individuals and identified 15 loci that influence adult height. In addition, we also identified five genetic loci associated with extreme short stature ISS.…”

Section: Discussionmentioning

confidence: 99%

Identification of 15 loci influencing height in a Korean population

et al. 2009

View full text Add to dashboard Cite

Height is a complex genetic trait that involves multiple genetic loci. Recently, 44 loci associated with height were identified in Caucasian individuals by large-scale genome-wide association (GWA) studies. To identify genetic variants influencing height in the Korean population, we analyzed GWA data from 8842 Korean individuals and identified 15 genomic regions with one or more sequence variants associated with height (Po1Â10 À5 ). Of these, eight loci were newly identified in Koreans (SUPT3H, EXT1, FREM1, PALM2-AKAP2, NUP37-PMCH, IGF1, KRT20 and ANKRD60). The 15 significant loci account for approximately 1.0% of height variation, with a 3.7-cm difference between individuals with p8 height-increasing alleles (5.1%) and X19 height-increasing alleles (4.2%). We also examined the associations between height loci and idiopathic short stature (ISS). Five loci (SPAG17, KBTBD8, HHIP, HIST1H1D and ACAN) were significantly associated with ISS (uncorrected Po0.05), indicating that height-associated genes in the adult population are involved in extreme cases of short stature in children. This study validates previous reports of loci associated with human height and identified novel candidate regions involved in human growth and development.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of 15 loci influencing height in a Korean population

et al. 2009

View full text Add to dashboard Cite

show abstract

“…Discordant segregation of the COL2A1 gene and mild autosomal dominant SED [6] has been found. More studies are required to firmly establish the diagnostic criteria for these diseases.…”

Section: Normal Adult Heightmentioning

confidence: 99%

The type II collagenopathies: A spectrum of chondrodysplasias

1994

View full text Add to dashboard Cite

With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy. The mutations are expressed in the heterozygous state, and inheritance of type II collagenopathies is autosomal dominant. The wide range of clinical manifestations is not well understood but characterization of the basic defect may provide clues to establish specific genotype-phenotype correlations.

show abstract

“…3 Briefly, the phenotype of the affected subjects is of proportionate short stature (below the 5th centile for age), with a stocky habitus and progressive osteoarthropathy of the weight bearing joints. Radiographically there is prominent end plate irregularity and scle-rosis of the vertebral bodies.…”

Section: Methodsmentioning

confidence: 99%

“…4 5 Genotyping DNA samples from 14 subjects from the SED-K kindred ( fig 2) including nine affected subjects, three unaffected related subjects, and two unrelated spouses were available for genotyping from the previously reported linkage study. 3 The DNA samples from the SED-K family were typed using a standard set of fluorescently labelled microsatellite markers that spanned the genome 6 and 10 additional markers spanning a 40 cM region of chromosome 15q26.1. DNA samples were available from the AR-MED family as described in Bayoumi et al 5 and genotyped for markers D15S979 and D15S202.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

Eyre

Roby²,

Wolstencroft³

et al. 2002

Journal of Medical Genetics

View full text Add to dashboard Cite

We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 between markers D15S979 and D15S1004. According to current linkage maps and sequence data, this locus includes that of the aggrecan gene (AGC1). Our linkage data from the SED family show, however, that AGC1 maps to a locus that is proximal to D15S979. This proximal location for AGC1 is further supported by linkage data from a second family with an autosomal recessive form of multiple epiphyseal dysplasia that also maps to the SED locus. In both families AGC1 is therefore excluded as a candidate gene.

show abstract

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

Cited by 38 publications

References 12 publications

Identification of 15 loci influencing height in a Korean population

Identification of 15 loci influencing height in a Korean population

The type II collagenopathies: A spectrum of chondrodysplasias

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

Contact Info

Product

Resources

About