Spondyloepimetaphyseal Dysplasia

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What is spondyloepimetaphyseal dysplasia, Strudwick type?

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.

People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Abnormal curvature of the spine (scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), a hip joint abnormality in which the upper leg bones turn inward (coxa vara), and a foot deformity known as a clubfoot. Arthritis may develop early in life.

People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision.

How common is spondyloepimetaphyseal dysplasia, Strudwick type?

This condition is very rare; only a few affected individuals have been reported.

What genes are related to spondyloepimetaphyseal dysplasia, Strudwick type?

Mutations in the COL2A1 gene cause spondyloepimetaphyseal dysplasia, Strudwick type.

Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.

How do people inherit spondyloepimetaphyseal dysplasia, Strudwick type?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Source: National Institutes of Health

Reports summarize glycobiology study results from University of Mainz

"Two major isoenzymes, PAPS synthase 1 (PAPSS1) and PAPS synthase 2 (PAPSS2) were identified in higher organisms for the synthesis of PAPS. PAPSS1 is the more prominent isoform and is ubiquitously expressed in human adult tissues, including cartilage, while PAPSS2 shows a more restricted expression pattern and appears to be the major variant in growth plate cartilage (Fuda et al. [2002] Biochem J 365(Pt 2):497-504). Mutations within the murine and the human PAPSS2 genes are responsible for diseases affecting the skeletal system (Kurima et al. [1998] Proc Natl Acad Sci USA 95:8681-8685; ul Haque et al. [1998] Nat Genet 20:157-162), like the spondyloepimetaphyseal dysplasia (SEMD) Pakistani type. To further elucidate the function of Papss2 within the developing skeleton, we investigated the expression pattern of the murine gene at different developmental stages. We detected Papss2 mRNA starting from 11.5 days post coitum (dpc) at the sites of first chondrogenic condensations and the expression continued in all cartilaginous elements tested of 12.5 dpc, 13.5 dpc, 16.5 dpc embryos, and newborn mice. Papss2 transcripts were also observed in other tissues such as heart, tongue, kidney, and neuronal tissues," wrote C. Stelzer and colleagues, University of Mainz.

The researchers concluded: "However, the most significant levels of Papss2 mRNA were found in condensing and proliferating chondrocytes, whereas hypertrophic chondrocytes show a dramatic down-regulation of Papss2 mRNA expression, indicating an important role of the gene product for cartilage growth and development in mouse embryo."

Stelzer and colleagues published their study in Developmental Dynamics (Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo. Developmental Dynamics, 2007;236(5):1313-8).

For more information, contact C. Stelzer, University of Mainz, Children's Hospital, Mainz, Germany.

Publisher contact information for the journal Developmental Dynamics is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA.

Keywords: Germany, Mainz, Glycobiology.

This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.