Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature

European Journal of Paediatric Neurology

Volumn 10, Issue 1, 2006, Pages 11-17

  Verheij, Johanna B G M ^a   Sival, Deborah A ^a   van der Hoeven, Johannes H ^a   Vos, Yvonne J ^a   Meiners, Linda C ^a   Brouwer, Oebele F ^a   van Essen, Anthonie J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Case report; Demyelinating; Dysmyelination; PCWH; Review; Shah Waardenburg syndrome; SOX10 mutations

Indexed keywords

ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; MYELIN; TRANSCRIPTION FACTOR SOX10;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CELL MIGRATION; CLINICAL FEATURE; COLON AGANGLIONOSIS; CONGENITAL DISORDER; DEMYELINATING NEUROPATHY; DEVELOPMENTAL DISORDER; ELECTROMYOGRAPHY; EMBRYO DEVELOPMENT; FEMALE; GENE EXPRESSION; GENE MUTATION; GLIA CELL; GROWTH RETARDATION; HEARING IMPAIRMENT; HIRSCHSPRUNG DISEASE; HUMAN; LEUKODYSTROPHY; MELANOCYTE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NERVE CONDUCTION DISORDER; NEURAL CREST CELL; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT COUNSELING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHAH WAARDENBURG SYNDROME; WAARDENBURG SYNDROME;

BRAIN; DEMYELINATING DISEASES; DNA-BINDING PROTEINS; FEMALE; GROWTH; HIGH MOBILITY GROUP PROTEINS; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUSCLE HYPOTONIA; MUTATION; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; SYNDROME; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 33645868643     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2005.10.004     Document Type: Article

References (21)

1. Read A.P., and Newton V.E. Waardenburg syndrome. J Med Genet 34 8 (1997) 656-665
2. Cheng Y.C., Cheung M., Abu-Elmagd M.M., Orme A., and Scotting P.J. Chick Sox10, a transcription factor expressed in both early neural crest cells and central nervous system. Dev Brain Res 121 2 (2000) 233-241
3. Herbarth B., Pingault V., Bondurand N., Kuhlbrodt K., Hermans-Borgmeyer I., Puliti A., et al. Mutation of the sry-related Sox10 gene in dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 95 9 (1998) 5161-5165
4. Southard-Smith E.M., Kos L., and Pavan W.J. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 18 1 (1998) 60-64
5. Sonnenberg-Riethmacher E., Miehe M., Stolt C.C., Goerich D.E., Wegner M., and Riethmacher D. Development and degeneration of dorsal root ganglia in the absence of the HMG-domain transcription factor Sox10. Mech Dev 109 2 (2001) 253-265
6. Stolt C.C., Rehberg S., Ader M., Lommes P., Riethmacher D., Schachner M., et al. Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10. Genes Dev 16 2 (2002) 165-170
7. Britsch S., Goerich D.E., Riethmacher D., Peirano R.I., Rossner M., Nave K.A., et al. The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev 15 1 (2001) 66-78
8. Inoue K., Khajavi M., Ohyama T., Hirabayashi S., Wilson J., Reggin J.D., et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36 4 (2004) 361-369
9. Barkovich A.J. Normal development in pediatric neuroimaging. 3rd ed (2000), Lippincott/Williams and Wilkins, Philadelphia, PA/Baltimore, MD p. 42 [chapter 2]
10. Lee J.M., and Barry J.A. Influence of membrane lipid packing on T-2-weighted magnetic resonance images: study of relaxation parameters in model membrane systems. Magn Reson Med 36 3 (1996) 420-426
11. Kuhlbrodt K., Herbarth B., Sock E., Hermans-Borgmeyer I., and Wegner M. Sox10, a novel transcriptional modulator in glial cells. J Neurosci 18 1 (1998) 237-250
12. Pingault V., Bondurand N., Kuhlbrodt K., Goerich D.E., Prehu M.O., Puliti A., et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18 2 (1998) 171-173
13. Pingault V., Girard M., Bondurand N., Dorkins H., Van Maldergem L., Mowat D., et al. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet 111 2 (2002) 198-206
14. Peirano R.I., Goerich D.E., Riethmacher D., and Wegner M. Protein zero gene expression is regulated by the glial transcription factor Sox10. Mol Cell Biol 20 9 (2000) 3198-3209
15. Bondurand N., Girard M., Pingault V., Lemort N., Dubourg O., and Goossens M. 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 10 24 (2001) 2783-2795
16. Inoue K., Tanabe Y., and Lupski J.R. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 46 3 (1999) 313-318
17. Bondurand N., Pingault V., Goerich D.E., Lemort N., Sock E., Caignec C.L., et al. Interaction among SOX10, PAX3 and MITF, three genes altered in waardenburg syndrome in process citation. Hum Mol Genet 9 13 (2000) 1907-1917
18. Inoue K., Shilo K., Boerkoel C.F., Crowe C., Sawady J., Lupski J.R., et al. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol 52 6 (2002) 836-842
19. Southard-Smith E.M., Angrist M., Ellison J.S., Agarwala R., Baxevanis A.D., Chakravarti A., et al. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg- Shah (WS4) syndrome. Genome Res 9 3 (1999) 215-225
20. Touraine R.L., Attie-Bitach T., Manceau E., Korsch E., Sarda P., Pingault V., et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 66 5 (2000) 1496-1503
21. Sham M.H., Lui V., Chen B., Fu M., and Tam P. Novel mutations of SOX10 suggest a dominant negative role in Shah-Waardenburg syndrome. J Med Genet 38 (2001) e30