HSJ1-related hereditary neuropathies Novel mutations and extended clinical spectrum

Neurology

Volumn 83, Issue 19, 2014, Pages 1726-1732

  Gess, Burkhard ^a   Auer Grumbach, Michaela ^b   Schirmacher, Anja ^a   Strom, Tim ^c   Zitzelsberger, Manuela ^d   Rudnik Schöneborn, Sabine ^e   Röhr, Dominik ^a   Halfter, Hartmut ^a   Young, Peter ^a   Senderek, Jan ^d  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HEAT SHOCK PROTEIN 40; PROTEIN DNAJ; RNA; CELL CYCLE PROTEIN; CHAPERONE; DNAJB2 PROTEIN, HUMAN; MAD2L1BP PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ALGORITHM; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL LYSATE; CMT2 GENE; CONTROLLED STUDY; DENERVATION; DISTAL HEREDITARY MOTOR NEUROPATHY; ELECTROMYOGRAM; EXOME; GAIT DISORDER; GASTROCNEMIUS MUSCLE; GENE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HSJ1 GENE; HUMAN; HUMAN CELL; INTRON; INTRON RETENTION; KNEE FUNCTION; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOTOR NEUROPATHY; MUSCLE ATROPHY; NERVE CONDUCTION; PERONEUS MUSCLE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; STOP CODON; TENDON REFLEX; TIBIALIS ANTERIOR MUSCLE; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; WILD TYPE; ACTION POTENTIAL; AUSTRIA; DNA SEQUENCE; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; GERMANY; MALE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY;

ACTION POTENTIALS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AUSTRIA; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERMANY; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HSP40 HEAT-SHOCK PROTEINS; HUMANS; MALE; MOLECULAR CHAPERONES; MUTATION; NEURAL CONDUCTION; NUCLEAR PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84922247973     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000966     Document Type: Article

References (36)

1. Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 2012;83:6-14.
2. Evgrafov OV, Mersiyanova I, Irobi J, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602-606.
3. Irobi J, Van Impe K, Seeman P, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004;36:597-601.
4. Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-1299.
5. Auer-Grumbach M, Olschewski A, Papic L, et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42:160-164.
6. Kennerson ML, Nicholson GA, Kaler SG, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet 2010;86:343-352.
7. Blumen SC, Astord S, Robin V, et al. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol 2012;71:509-519.
8. Zhao H, Race V, Matthijs G, et al. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet 2014;22:847-850.
9. De Jonghe P, Auer-Grumbach M, Irobi J, et al. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain 2002;125:1320-1325.
10. Maystadt I, Rezsohazy R, Barkats M, et al. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet 2007;81:67-76.
11. Pitt M, Houlden H, Jacobs J, et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003;126:2682-2692.
12. Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003;33:455-456.
13. Weedon MN, Hastings R, Caswell R, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2011;89:308-312.
14. Barwick KE, Wright J, Al-Turki S, et al. Defective pre-synaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet 2012;91:1103-1107.
15. Beetz C, Pieber TR, Hertel N, et al. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet 2012;91:139-145.
16. Kolb SJ, Snyder PJ, Poi EJ, et al. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 2010;74:502-506.
17. Oates EC, Rossor AM, Hafezparast M, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013; 92:965-973.
18. Neveling K, Martinez-Carrera LA, Hölker I, et al. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet 2013;92:946-954.
19. Choi BO, Kang SH, Hyun YS, et al. A complex pheno-type of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat 2011;32:669-677.
20. Zhao Z, Hashiguchi A, Hu J, et al. Alanyl-tRNA synthe-tase mutation in a family with dominant distal hereditary motor neuropathy. Neurology 2012;78:1644-1649.
21. Dierick I, Baets J, Irobi J, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008;131:1217-1227.
22. Fischer C, Trajanoski S, Papic L, et al. SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. J Neurol 2012; 259: 515-523.
23. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin: rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002;30:97-101.
24. Wurschum T, Liu W, Gowda M, et al. Comparison of biometrical models for joint linkage association mapping. Heredity 2012;108:332-340.
25. Gess B, Jeibmann A, Schirmacher A, Kleffner I, Schilling M, Young P. Report of a novel mutation in the PMP22 gene causing an axonal neuropathy. Muscle Nerve 2011;43:605-609.
26. Jiang Z, Uboh CE, Chen J, Soma LR. Isolation of RNA from equine peripheral blood cells: comparison of methods. Springerplus 2013;2:478.
27. Lippert J, Halfter H, Heidbreder A, et al. Altered dynamics in the circadian oscillation of clock genes in dermal fibroblasts of patients suffering from idiopathic hypersom-nia. PLoS One 2014;9:e85255.
28. Gess B, Lohmann C, Halfter H, Young P. Sodium-dependent vitamin C transporter 2 (SVCT2) is necessary for the uptake of L-ascorbic acid into Schwann cells. Glia 2010;58:287-299.
29. Schabhuttl M, Wieland T, Senderek J, et al. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014;261:970-982.
30. Qiu XB, Shao YM, Miao S, Wang L. The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chap-erones. Cell Mol Life Sci 2006;63:2560-2570.
31. Hauser MA, Conde CB, Kowaljow V, et al. myotilin Mutation found in second pedigree with LGMD1A. Am J Hum Genet 2002;71:1428-1432.
32. Claeys KG, Sozanska M, Martin JJ, et al. DNAJB2 expression in normal and diseased human and mouse skeletal muscle. Am J Pathol 2010;176:2901-2910.
33. Chapple JP, Cheetham ME. The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation. J Biol Chem 2003;278:19087-19094.
34. Westhoff B, Chapple JP, van der Spuy J, Hohfeld J, Cheetham ME. HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome. Curr Biol 2005;15:1058-1064.
35. Labbadia J, Novoselov SS, Bett JS, et al. Suppression of protein aggregation by chaperone modification of high molecular weight complexes. Brain 2012;135:1180-1196.
36. Novoselov SS, Mustill WJ, Gray AL, et al. Molecular cha-perone mediated late-stage neuroprotection in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis. PLoS One 2013;8:e73944.