X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21

Neurology

Volumn 72, Issue 3, 2009, Pages 246-252

  Kennerson, M ^a   Nicholson, G ^a   Kowalski, B ^a   Krajewski, K ^b   El Khechen, D ^b   Feely, S ^b   Chu, S ^a   Shy, M ^b   Garbern, J ^b  

^a Department of Microbiology and Infectious Diseases   (Australia)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN; PROTEIN GAP JUNCTION BETA 1; UNCLASSIFIED DRUG; CONNEXIN 32; MICROSATELLITE DNA;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; MOTOR NEUROPATHY; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SPINAL MUSCULAR ATROPHY; X CHROMOSOME LINKED DISORDER; CHROMOSOME MAP; GENETICS; MIDDLE AGED; X CHROMOSOMAL INHERITANCE; X CHROMOSOME;

ADOLESCENT; ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; CONNEXINS; GENES, X-LINKED; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MICROSATELLITE REPEATS; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; SEQUENCE ANALYSIS;

EID: 59649113009     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000339483.86094.a5     Document Type: Article

References (27)

1. Skre H. Genetic and clinical aspects of Charcot-Marie- Tooth's disease. Clin Genet 1974;6:98-118.
2. Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Med 2006;8:131-146.
3. De Jonghe P, Timmerman V, Van BC. 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. Neuromuscul Disord 1998;8:426-431.
4. Van Den Bosch L, Timmerman V. Genetics of motor neuron disease. Curr Neurol Neurosci Rep 2006;6:423-431.
5. Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA heli- case gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am JHum Genet2004;74:1128-1135.
6. 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.
7. 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.
8. 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.
9. Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004;36:271-276.
10. Puls I, Oh SJ, Sumner CJ, et al. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 2005;57:687-694.
11. Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003;33:455-456.
12. Munch C, Sedlmeier R, Meyer T, et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004;63:724-726.
13. Takata RI, Speck Martins CE, Passosbueno MR, et al. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. J Med Genet 2004;41:224-229.
14. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446.
15. Cottingham JrRW, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-263.
16. Kong X, Murphy K, Raj T, He C, White PS, Matise TC. A combined linkage-physical map ofthe human genome. Am J Hum Genet 2004;75:1143-1148.
17. Kennerson ML, Warburton T, Nelis E, et al. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clin Chem 2007;53:349-352.
18. Neuhaus IM, Dahl G, Werner R. Use ofalternate promoters for tissue-specific expression ofthe gene coding for con-nexin32. Gene 1995;158:257-262.
19. Hammad M, Silva A, Glass J, Sladky JT, Benatar M. Clinical, electrophysiologic, and pathologic evidence for sensory abnormalities in ALS. Neurology 2007; 69:2236-2242.
20. Isaacs JD, Dean AF, Shaw CE, Al-Chalabi A, Mills KR, Leigh PN. Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? J Neurol Neuro-surg Psychiatry 2007;78:750-753.
21. Pugdahl K, Fuglsang-Frederiksen A, de Carvalho M, et al. Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study. J Neurol Neurosurg Psychiatry 2007;78:746-749.
22. Lewcock JW, Genoud N, Lettieri K, PfaffSL. The ubiq-uitin ligase Phr1 regulates axon outgrowth through modulation ofmicrotubule dynamics. Neuron 2007;56: 604-620.
23. Attia M, Rachez C, De Pauw A, Avner P, Rogner UC. Nap1l2 promotes histone acetylation activity during neuronal differentiation. Mol Cell Biol 2007;27:6093- 6102.
24. Wehner M, Clemens PR, Engel AG, Kilimann MW. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet 1994;3: 1983-1987.
25. Zuchner S, Noureddine M, Kennerson M, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005;37:289-294.
26. Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005;37:1207-1209.
27. Beutler E. PGK deficiency. Br J Haematol 2007;136: 3-11.