Abstract:
:The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). Associated neurological signs have been reported in some cases, including a patient exhibiting a central and peripheral myelin deficiency. Therefore, we screened for SOX10 mutations in a large cohort of patients with peripheral and central myelin disorders. 56 were affected by classical demyelinating Charcot-Marie-Tooth disease without identified mutations in the genes encoding PNS myelin proteins (PMP22, P0), connexin 32 and the zinc-finger transcription factor, EGR2. 88 patients with undetermined leukodystrophy were selected from a large European prospective study. Associated clinical, magnetic resonance imaging and electrophysiological signs were consistent with a defect in CNS myelination in 83 and with an active degeneration of the CNS myelin in 5. No abnormalities in the proteolipid protein gene (PLP) were found. The absence of SOX100 mutation in this large cohort of patients suggests that this gene is not frequently involved in peripheral or central inherited myelin disorders.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Pingault V,Bondurand N,Le Caignec C,Tardieu S,Lemort N,Dubourg O,Le Guern E,Goossens M,Boespflug-Tanguy O,Clinical E.N.B.D.D. Clinical European Network on Brain Dysmyelinating Disease.doi
10.1007/s004150170159keywords:
subject
Has Abstractpub_date
2001-06-01 00:00:00pages
496-9issue
6eissn
0340-5354issn
1432-1459journal_volume
248pub_type
杂志文章abstract::Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phen...
journal_title:Journal of neurology
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