American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2020, 8(10), 325-327
DOI: 10.12691/ajmcr-8-10-1
Open AccessCase Report

Three Novel HSPG2 Mutations Causing Schwartz-Jampel Syndrome

Andrew Wahba1, and Rafik ElBeblawy2

1Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center Houston,TX

2University of Louisville, School of Medicine, Louisville, KY

Pub. Date: June 16, 2020

Cite this paper:
Andrew Wahba and Rafik ElBeblawy. Three Novel HSPG2 Mutations Causing Schwartz-Jampel Syndrome. American Journal of Medical Case Reports. 2020; 8(10):325-327. doi: 10.12691/ajmcr-8-10-1


Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive hereditary disorder characterized by the triad of myotonia, facial dysmorphisms, and skeletal deformities. Less than 150 cases have been reported in the medical literature. SJS is caused by mutations in the gene heparan sulfate proteoglycan 2 (HSPG2) located on chromosome 1p34-36.1 which encodes perlecan, a major component of basement membranes. Here we report three novel mutations in a 6-year-old girl.

Schwartz-Jampel syndrome heparan sulfate proteoglycan 2 HSPG2 myotonia

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[1]  Katirji B. Chapter 17 - Peripheral nerve hyperexcitability. In: Levin KH, Chauvel P, eds. Handbook of Clinical Neurology. Vol 161. Elsevier; 2019: 281-290.
[2]  SCHWARTZ O, JAMPEL RS. Congenital Blepharophimosis Associated with a Unique Generalized Myopathy. Archives of Ophthalmology. 1962; 68(1): 52-57.
[3]  Preston DC, Shapiro BE. 36 - Myotonic Muscle Disorders and Periodic Paralysis Syndromes. In: Preston DC, Shapiro BE, eds. Electromyography and Neuromuscular Disorders (Third Edition). London: W.B. Saunders; 2013: 563-582.
[4]  Sharma B, Handler M, Eichstetter I, Whitelock JM, Nugent MA, Iozzo RV. Antisense targeting of perlecan blocks tumor growth and angiogenesis in vivo. The Journal of Clinical Investigation. 1998; 102(8): 1599-1608.
[5]  Nicole S, Davoine C-S, Topaloglu H, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nature Genetics. 2000; 26(4): 480-483.
[6]  Peng HB, Xie H, Rossi SG, Rotundo RL. Acetylcholinesterase Clustering at the Neuromuscular Junction Involves Perlecan and Dystroglycan. Journal of Cell Biology. 1999; 145(4): 911-921.
[7]  Arikawa-Hirasawa E, Wilcox WR, Le AH, et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nature Genetics. 2001; 27(4): 431-434.
[8]  Arikawa-Hirasawa E, Le AH, Nishino I, et al. Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia. The American Journal of Human Genetics. 2002; 70(5): 1368-1375.
[9]  Giedion A, Boltshauser E, Briner J, et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. European journal of pediatrics. 1997; 156: 214-223.
[10]  Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). Journal of Medical Genetics. 1992; 29(1): 58-62.
[11]  Stum M, Davoine C-S, Vicart S, et al. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Human Mutation. 2006; 27(11): 1082-1091.
[12]  Mathur N, Ghosh PS. Schwartz-Jampel Syndrome. Pediatric Neurology. 2017; 68: 77-78.
[13]  Regalo SC, Vitti M, Semprini M, et al. The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis. Electromyogr Clin Neurophysiol. 2005; 45(3): 183-189.
[14]  Narayanaswami P. 17 - Treatment and Management of Disorders of Neuromuscular Hyperexcitability. In: Bertorini TE, ed. Neuromuscular Disorders: Treatment and Management. Saint Louis: W.B. Saunders; 2011: 285-306.
[15]  Iwata S, Ito M, Nakata T, et al. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. Neuromuscul Disord. 2015; 25(8): 667-671.
[16]  Das Bhowmik A, Dalal A, Matta D, Kandadai RM, Kanikannan MA, Aggarwal S. Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. Neuromuscul Disord. 2016; 26(11): 809-814.
[17]  Yan W, Dai J, Shi D, et al. Novel HSPG2 mutations causing Schwartz-Jampel syndrome type 1 in a Chinese family: A case report. Mol Med Rep. 2018; 18(2): 1761-1765.