Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy

Annals of Neurology

Volumn 71, Issue 5, 2012, Pages 719-723

  Funalot, Benoët ^a,b   Topilko, Piotr ^c   Arroyo, Maria Antonia Ramos ^d   Sefiani, Abdelaziz ^e   Hedley Whyte, E Tessa ^f   Yoldi, Maria E ^d   Richard, Laurence ^a,b   Touraille, Estelle ^a   Laurichesse, Mathieu ^a   Khalifa, Emmanuel ^a,b   Chauzeix, Jasmine ^a   Ouedraogo, Adama ^b   Cros, Didier ^f   Magdelaine, Corinne ^a,b   Sturtz, Franck G ^a,b   Urtizberea, J Andoni ^g   Charnay, Patrick ^c   Bragado, Federico Garcia ^d   Vallat, Jean Michel ^a,b  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

^b University of Limoges   (France)

^c ECOLE NORMALE SUPÉRIEURE   (France)

^d Universidad Pública de Navarra   (Spain)

^e MOHAMMED V UNIVERSITY   (Morocco)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g Seaside Hospital of Paris   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 2; TRANSCRIPTION FACTOR SOX10;

ARTICLE; CASE REPORT; CONGENITAL AMYELINATING NEUROPATHY; CONTROLLED STUDY; DEMYELINATING NEUROPATHY; ENHANCER REGION; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; MYELIN SHEATH; NERVE FIBER; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHWANN CELL; SCHWANN CELL ELEMENT;

BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; EARLY GROWTH RESPONSE PROTEIN 2; ENHANCER ELEMENTS, GENETIC; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MYELIN SHEATH; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84860212083     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23527     Document Type: Article

References (20)

1. Kasman M, Bernstein L, Schulman S,. Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence. Neurology 1976; 26: 565-573.
2. Palix C, Coignet J,. A case of neonatal peripheral polyneuritis due to demyelination [in French]. Pediatrie 1978; 33: 201-207.
3. Charnas L, Trapp B, Griffin J,. Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 1988; 38: 966-974.
4. Topilko P, Schneider-Maunoury S, Levi G, et al. Krox-20 controls myelination in the peripheral nervous system. Nature 1994; 371: 796-799.
5. Coulpier F, Decker L, Funalot B, et al. CNS/PNS boundary transgression by central glia in the absence of Schwann cells or Krox20/Egr2 function. J Neurosci 2010; 30: 5958-5967.
6. Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998; 18: 382-384.
7. Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999; 52: 1827-1832.
8. Szigeti K, Wiszniewski W, Saifi GM, et al. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 2007; 8: 257-262.
9. Reiprich S, Kriesch J, Schreiner S, Wegner M,. Activation of Krox20 gene expression by Sox10 in myelinating Schwann cells. J Neurochem 2010; 112: 744-754.
10. Ghislain J, Desmarquet-Trin-Dinh C, Jaegle M, et al. Characterisation of cis-acting sequences reveals a biphasic, axon-dependent regulation of Krox20 during Schwann cell development. Development 2002; 129: 155-166.
11. Ghislain J, Charnay P,. Control of myelination in Schwann cells: a Krox20 cis-regulatory element integrates Oct6, Brn2 and Sox10 activities. EMBO Rep 2006; 7: 52-58.
12. Hastings PJ, Lupski JR, Rosenberg SM, Ira G,. Mechanisms of change in gene copy number. Nat Rev Genet 2009; 10: 551-564.
13. Shaikh TH, Gai X, Perin JC, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682-1690.
14. Kao SC, Wu H, Xie J, et al. Calcineurin/NFAT signaling is required for neuregulin-regulated Schwann cell differentiation. Science 2009; 323: 651-654.
15. Chomette D, Frain M, Cereghini S, et al. Krox20 hindbrain cis-regulatory landscape: interplay between multiple long-range initiation and autoregulatory elements. Development 2006; 133: 1253-1262.
16. Bondurand N, Girard M, Pingault V, et al. Human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet 2001; 10: 2783-2795.
17. Houlden H, Girard M, Cockerell C, et al. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol 2004; 56: 730-734.
18. Loots GG, Kneissel M, Keller H, et al. Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. Genome Res 2005; 15: 928-935.
19. Kleinjan DA, van Heyningen V,. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005; 76: 8-32.
20. Zhang F, Seeman P, Liu P, et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 2010; 86: 892-903.