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• W2171112022 abstract "Background/Purpose Recent biologic studies have revealed that enteric neuroglial deficiency causes gut functional deterioration. We studied the central and peripheral nervous systems in a SOX10 mutation–associated Hirschsprung's patient who presented persistent gut functional disorders even after definitive surgery. Methods DNA sequences of all coding regions of the SOX10 gene (22q13) were determined using the direct DyeDeoxy Terminator Cycle method, and brain magnetic resonance images, nerve conduction velocities, and histopathology of the enteric nervous system were investigated for neurologic assessment. Results DNA analysis revealed a heterozygous nucleotide deletion (778delG) in SOX10 exon 5, causing a frameshift at codon 260 and resulting in premature transcriptional termination at codon 285. Neurologic studies disclosed brain hypomyelination, peripheral dysmyelinating neuropathy, and enteric neuroglia deficiency, which exclusively implied systemic glial maldevelopment. Conclusion These results suggest that the enteric nervous system in patients with SOX10-associated Hirschsprung's disease is entirely subject to neuroglial impairment. This may explain persistent gut motility and absorption insufficiency after pull-through surgery, especially in children with allelic SOX10 truncating mutations." @default.
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• W2171112022 date "2007-04-01" @default.
• W2171112022 modified "2023-09-25" @default.
• W2171112022 title "Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation" @default.
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• W2171112022 doi "https://doi.org/10.1016/j.jpedsurg.2006.12.003" @default.
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