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Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy
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Feb 10 2014
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Source: Pediatr Neurol. 2014; 50(6):608-611.
Details:
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Alternative Title:Pediatr Neurol
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Personal Author:
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Description:Background
Leukodystrophies are a large group of inherited diseases of CNS myelin. There are few treatments, and a majority of patients do not receive a final genetic diagnosis.
Patient
We report a novel presentation of a female child with hypotonia, global developmental delay, and rotatory nystagmus. Brain MRI demonstrated profound hypomyelination; and minimal or no atrophy in the brain stem or cerebellum.
Results
Extensive testing failed to yield a diagnosis until clinical whole exome sequencing revealed a novel pathogenic mutation in the β-tubulin gene TUBB4A. TUBB4A is a cause of hereditary dystonia type 4 (DYT4) and has recently been reported to cause hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
Conclusions
This report expands the phenotypic spectrum of TUBB4A-associated neurological diseases to include static hypomyelinating leukodystrophy and supports the clinical relevance of next generation sequencing diagnosis approaches.
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Subjects:
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Source:
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Pubmed ID:24742798
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Pubmed Central ID:PMC4029864
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Document Type:
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Funding:
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Volume:50
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Issue:6
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Main Document Checksum:
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Download URL:
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File Type:
[PDF-219.11 KB]
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