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HSPG2 (Perlecan), the Silverman-Handmaker Type of Dyssegmental Dysplasia, and the Schwartz-Jampel Syndrome 

HSPG2 (Perlecan), the Silverman-Handmaker Type of Dyssegmental Dysplasia, and the Schwartz-Jampel Syndrome
Chapter:
HSPG2 (Perlecan), the Silverman-Handmaker Type of Dyssegmental Dysplasia, and the Schwartz-Jampel Syndrome
Author(s):

Sophie Nicole

and Bertrand Fontaine

DOI:
10.1093/med/9780199934522.003.0198
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date: 24 February 2021

Perlecan is a proteoglycan present in all basement membranes with critical roles in several cell processes including basement membrane maintenance, cell adhesion properties, and regulation of growth factors signaling pathways. According to this large panel of functions, perlecan is associated to a complex series of physiological processes including cell proliferation, angiogenesis, endochondral ossification, neuromuscular excitability, and wound healing. Two rare and recessively inherited human disorders are associated with perlecan loss of function: the lethal dyssegmental dysplasia, Silverman-Handmaker type (DDSH), and the life-compatible Schwartz-Jampel syndrome (SJS). Both are characterized by bone defects. Peripheral nerve hyperexcitability is also observed in SJS. A gene dosage effect accounts for the phenotypic difference between the two conditions. Investigations of animal models have demonstrated that they result from a combination of several structural and cell signaling defects on endochondral ossification and neuromuscular development as expected for the pleiotropic functions of this gigantic proteoglycan.

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