Document Detail

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
MedLine Citation:
PMID:  16504559     Owner:  NLM     Status:  MEDLINE    
Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoïd (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations in the EDN, EDNRB and SOX10 genes can be found in patients with this syndrome. SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Neuronal expression of SOX10 occurs in neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10. Main clinical features were mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. She presented with hypotonia, developmental delay, reduced peripheral nerve conduction velocities, and radiologically assessed central hypomyelination. Subsequently, the formation of abnormal myelin within the central and peripheral nervous system was functionally and radiologically assessed. Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling.
Johanna B G M Verheij; Deborah A Sival; Johannes H van der Hoeven; Yvonne J Vos; Linda C Meiners; Oebele F Brouwer; Anthonie J van Essen
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-02-28
Journal Detail:
Title:  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society     Volume:  10     ISSN:  1090-3798     ISO Abbreviation:  Eur. J. Paediatr. Neurol.     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-04-19     Completed Date:  2006-06-21     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9715169     Medline TA:  Eur J Paediatr Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  11-7     Citation Subset:  IM    
Department of Medical Genetics, University Medical Centre Groningen, Groningen University, Box 30.001, 9700 RB Groningen, The Netherlands.
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MeSH Terms
Brain / pathology
DNA-Binding Proteins / genetics*
Demyelinating Diseases / genetics*,  pathology,  radiography
Growth / physiology
High Mobility Group Proteins / genetics*
Hirschsprung Disease / genetics*,  pathology,  radiography
Infant, Newborn
Magnetic Resonance Imaging
Muscle Hypotonia / genetics,  pathology
Neural Conduction / physiology
Neurologic Examination
SOXE Transcription Factors
Transcription Factors / genetics*
Waardenburg's Syndrome / genetics*,  pathology,  radiography
Reg. No./Substance:
0/DNA-Binding Proteins; 0/High Mobility Group Proteins; 0/SOX10 protein, human; 0/SOXE Transcription Factors; 0/Transcription Factors

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