A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space

Neuromuscular Disorders

Volumn 25, Issue 8, 2015, Pages 667-671

  Iwata, Satoshi ^a   Ito, Mikako ^a   Nakata, Tomohiko ^a   Noguchi, Yoichiro ^a   Okuno, Tatsuya ^a   Ohkawara, Bisei ^a   Masuda, Akio ^a   Goto, Tomohide ^b   Adachi, Masanori ^b   Osaka, Hitoshi ^b,c   Nonaka, Risa ^d   Arikawa Hirasawa, Eri ^d   Ohno, Kinji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

^d JUNTENDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Perlecan; Schwartz Jampel syndrome; Whole genome resequencing analysis

Indexed keywords

CARBAMAZEPINE; GROWTH HORMONE; MESSENGER RNA; MEXILETINE; PERLECAN; PHENYTOIN; PROTEOHEPARAN SULFATE;

AMINO ACID SUBSTITUTION; ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CHONDRODYSPLASIA; CLINICAL FEATURE; DISEASE SEVERITY; DOMAIN III 2; DRUG ERUPTION; DRUG WITHDRAWAL; ELECTROMYOGRAM; EXTRACELLULAR SPACE; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; HEK293 CELL LINE; HETEROZYGOSITY; HSPG2 GENE; HUMAN; HUMAN TISSUE; JAPANESE (PEOPLE); KNEE FUNCTION; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN SECRETION; SCHOOL CHILD; SCHWARTZ JAMPEL SYNDROME; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; WALKING DIFFICULTY; WHOLE GENOME RESEQUENCING; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; JAPAN; METABOLISM; PATHOLOGY; SECRETION (PROCESS); SKELETAL MUSCLE;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; EXTRACELLULAR SPACE; HEK293 CELLS; HEPARAN SULFATE PROTEOGLYCANS; HUMANS; JAPAN; MALE; MUSCLE, SKELETAL; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS;

EID: 84937630855     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.05.002     Document Type: Article

References (25)

1. Schwartz O., Jampel R.S. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962, 68:52-57.
2. 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). Nat Genet 2000, 26:480-483.
3. Arikawa-Hirasawa E., Le A.H., Nishino I., et al. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002, 70:1368-1375.
4. Stum M., Davoine C.S., Vicart S., et al. Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat 2006, 27:1082-1091.
5. Arikawa-Hirasawa E., Wilcox W.R., Le A.H., et al. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet 2001, 27:431-434.
6. Rieubland C., Jacquemont S., Mittaz L., et al. Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. Eur J Med Genet 2010, 53:294-298.
7. Arikawa-Hirasawa E., Watanabe H., Takami H., Hassell J.R., Yamada Y. Perlecan is essential for cartilage and cephalic development. Nat Genet 1999, 23:354-358.
8. Costell M., Gustafsson E., Aszodi A., et al. Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol 1999, 147:1109-1122.
9. Whitelock J.M., Melrose J., Iozzo R.V. Diverse cell signaling events modulated by perlecan. Biochemistry 2008, 47:11174-11183.
10. Echaniz-Laguna A., Rene F., Marcel C., et al. Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. Muscle Nerve 2009, 40:55-61.
11. Bangratz M., Sarrazin N., Devaux J., et al. A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. Am J Pathol 2012, 180:2040-2055.
12. Stum M., Girard E., Bangratz M., et al. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet 2008, 17:3166-3179.
13. Peng H.B., Xie H., Rossi S.G., Rotundo R.L. Acetylcholinesterase clustering at the neuromuscular junction involves perlecan and dystroglycan. J Cell Biol 1999, 145:911-921.
14. Ito M., Suzuki Y., Okada T., et al. Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction. Mol Ther 2012, 20:1384-1392.
15. Li H., Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010, 26:589-595.
16. Koboldt D.C., Zhang Q., Larson D.E., et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012, 22:568-576.
17. Bell C.J., Dinwiddie D.L., Miller N.A., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011, 3:65ra4.
18. Bauche S., Boerio D., Davoine C.S., et al. Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome. Neuromuscul Disord 2013, 23:998-1009.
19. Arikawa-Hirasawa E., Rossi S.G., Rotundo R.L., Yamada Y. Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice. Nat Neurosci 2002, 5:119-123.
20. Vorechovsky I. Transposable elements in disease-associated cryptic exons. Hum Genet 2010, 127:135-154.
21. Rodgers K.D., Sasaki T., Aszodi A., Jacenko O. Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. Hum Mol Genet 2007, 16:515-528.
22. Ghiselli G., Eichstetter I., Iozzo R.V. A role for the perlecan protein core in the activation of the keratinocyte growth factor receptor. Biochem J 2001, 359:153-163.
23. Sher I., Zisman-Rozen S., Eliahu L., et al. Targeting perlecan in human keratinocytes reveals novel roles for perlecan in epidermal formation. J Biol Chem 2006, 281:5178-5187.
24. Smith S.M., West L.A., Hassell J.R. The core protein of growth plate perlecan binds FGF-18 and alters its mitogenic effect on chondrocytes. Arch Biochem Biophys 2007, 468:244-251.
25. Whitelock J.M., Iozzo R.V. Heparan sulfate: a complex polymer charged with biological activity. Chem Rev 2005, 105:2745-2764.