Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

Spranger, Jürgen W.; Hall, Bryan D.; Hane, Bernhard; Srivastava, Anand; Stevenson, Roger E.

doi:10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g

Cited by 45 publications

(36 citation statements)

References 30 publications

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“…A less severe disease, Schwartz-Jampel syndrome (SJS), is a progressive disorder caused by reduced levels of perlecan (Nicole et al, 2000) resulting in reduced stature, short tubular bones, distinguishable facial features, malformed hip structures, pigeon breast, and other forms of skeletal dysplasia (Aberfeld et al, 1965; Giedion et al, 1997; Spranger et al, 2000). Mice harboring a human genetic alteration described to cause SJS (G4595A) (Nicole et al, 2000) in addition to a neomycin selection cassette (C1532Yneo mice) present with a skeletal disease phenotype characteristic of SJS patients, including transcriptional alterations in HSPG2 , the gene encoding perlecan, leading to reduced levels of perlecan secretion into the ECM (Rodgers et al, 2007).…”

Section: Skeletal Growth Through Eomentioning

confidence: 99%

Heparan sulfate proteoglycans: A GAGgle of skeletal‐hematopoietic regulators

Rodgers

Antonio

Jacenko

2008

Developmental Dynamics

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This review summarizes our current understanding of the presence and function of heparan sulfate proteoglycans (HSPGs) in skeletal development and hematopoiesis. Although proteoglycans (PGs) comprise a large and diverse group of cell surface and matrix molecules, we chose to focus on HSPGs owing to their many proposed functions in skeletogenesis and hematopoiesis. Specifically, we discuss how HSPGs play predominant roles in establishing and regulating niches during skeleto-hematopoietic development by participating in distinct developmental processes such as patterning, compartmentalization, growth, differentiation, and maintenance of tissues. Special emphasis is placed on our novel hypothesis that mechanistically links endochondral skeletogenesis to the establishment of the hematopoietic stem cell (HSC) niche in the marrow. HSPGs may contribute to these developmental processes through their unique abilities to establish and mediate morphogen, growth factor, and cytokine gradients; facilitate signaling; provide structural stability to tissues; and act as molecular filters and barriers. Developmental TRIBUTE TO DR. ELIZABETH D. HAYDr. Elizabeth Dexter Hay, "Betty" to her friends, would often introduce her seminars on extracellular matrix (ECM) and epithelial-mesenchymal cell transformations by showing pictures of her cats asleep intertwined with a blanket. She would use this analogy to highlight the intimate association that exists between a cell and its ECM during development. She was a pioneer who brought forth the notion that the ECM is not just a static "stuffing between cells," but has interactive and instructive roles in development.Betty's contribution to the ECM field began with her seminal discoveries in the emerging field of electron microscopy. She worked with Keith Porter, George Palade, Don Fawcett, Susumo Ito, Jean-Paul Revel, and others to unravel the intricate microanatomy of the cell and its ECM. Once, when working with Jean-Paul Revel to extend autoradiography to the ultrastructural level, Betty noticed that tritiated proline was incorporated into collagen in the ECM outside of the cartilage cells. Betty went on to demonstrate that epithelial cells, as well as other non-fibroblastic cells, do secrete collagen. Moreover, in her descriptions of the development and structure of the various matrices, Betty brought forth the hypothesis that the ECM interacts with cells, and that through these interactions, the cells are instructed to modify their behavior. This notion was showcased in the "Epithelial-Mesenchymal Transformation Model" she proposed to describe the dramatic morphological transformations of epithelial cells suspended in collagen gels.Among her numerous scientific accomplishments, Betty can be considered a founder of the field of cell biology. Moreover, through her personal attributes and interactions with col- leagues and her protegees, Betty has set the standard for many a scientist. This review is a tribute to Betty, a friend, colleague, and mentor, and highlights our developing premi...

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Section: Skeletal Growth Through Eomentioning

confidence: 99%

Heparan sulfate proteoglycans: A GAGgle of skeletal‐hematopoietic regulators

Rodgers

Antonio

Jacenko

2008

Developmental Dynamics

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“…The case described by Maclean and co-workers 10 was reported recently to have Schwartz-Jampel syndrome, 15 and the family reported by Toledo et al 5 in fact had osteogenesis imperfecta. This led Spranger et al 15 to suggest that kyphomelic dysplasia does not exist. However, there is still a group of cases described as kyphomelic dysplasia, which do not fit the profile of these or other disorders that manifest as dwarfism and kyphomelia.…”

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confidence: 94%

“…[1][2][3][4][5][6][7][8][9][10][11][12][13][14] However the diagnosis in several cases from the literature has been disputed. The case described by Maclean and co-workers 10 was reported recently to have Schwartz-Jampel syndrome, 15 and the family reported by Toledo et al 5 in fact had osteogenesis imperfecta. This led Spranger et al 15 to suggest that kyphomelic dysplasia does not exist.…”

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confidence: 96%

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

Kuijpers

2003

Journal of Medical Genetics

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“…Characteristic radiographic abnormalities include flat vertebrae, occasional coronal clefts, short tubular bones with metaphyseal flaring, fragmented capital femoral epiphyses, and large epiphyses of the distal femora and proximal tibiae. 101 The dyssegmental dysplasias, Silverman-Handmaker, and Rolland Desbuqouis types are autosomal recessive forms of neonatal short-limbed dwarfism in which vertebral segmentation defects and short, thick, bowed long bones are the prominent radiographic features. Clinically, unusual facies, short neck, narrow thorax, cleft palate, encephalocele, and reduced joint mobility are commonly seen.…”

Section: Perlecanmentioning

confidence: 99%

The skeletal dysplasias

Krakow¹,

Rimoin

2010

Genetics in Medicine

203

167

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Abstract:The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan. Genet Med 2010:12(6):327-341. Generalized disorders of cartilage and bone have been referred to as skeletal dysplasias, whereas those that affect an individual bone or group of bones have been referred to as dysostoses; however, these distinctions are blurring as their basic defects are elucidated. The skeletal dysplasias are associated with abnormalities in the patterning, development, maintenance, and size of the appendicular and axial skeleton and frequently result in disproportionate short stature. Until the early 1960s, most individuals with short stature were considered to have pituitary dwarfism, achondroplasia (short-limb dwarfism), or Morquio disease (short-trunked dwarfism). Presently, there are more than 350 well-characterized skeletal dysplasias that are classified primarily on the basis of clinical, radiographic, and molecular criteria. 1 They result from mutations in various families of genes that encode extracellular matrix proteins, transcription factors, tumor suppressors, signal transducers (ligands, receptors, and channel proteins), enzymes, cellular transporters, chaperones, intracellular binding proteins, RNA processing molecules, cilia and cytoplasmic proteins, and a number of gene products of currently unknown function. The skeletal dysplasiasThe skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. Although each skeletal dysplasia is relatively rare, collectively the birth incidence of these disorders is almost 1/5000. 2 These disorders range in severity from precocious arthropathy in relatively average stature individuals to severe dwarfism with perinatal mortality. These disorders can be associated with a variety of orthopedic, neurologic, auditory, visual, pulmonary, cardiac, renal, and psychological complications. EmbryologyThe human skeleton (from the greek, skeletos, "dried up") is a complex organ consisting of 206 bones (126 appendicular, 74 axial, and 6 ossicles). The musculoskeletal system also includes tendons, ligaments, and muscles, and, in addition to cartilage and bone, is involved in linear growth, mechanical support, movement, a blood cell and mineral reservoir, and protection of vital organs. These tissues and adipocytes all derive from mesenchymal precursor cells.The patterning and architecture of the skeleton during fetal development determine the number, size, and the shape of the future skeletal elem...

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Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease

Cited by 45 publications

References 30 publications

Heparan sulfate proteoglycans: A GAGgle of skeletal‐hematopoietic regulators

Heparan sulfate proteoglycans: A GAGgle of skeletal‐hematopoietic regulators

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

The skeletal dysplasias

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