Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients.
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ABSTRACT:
SUBMITTER: Irahara-Miyana K
PROVIDER: S-EPMC6173723 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Exonic deletions in <i>GALC</i> are frequent in Japanese globoid-cell leukodystrophy patients.
Irahara-Miyana Kaori K Enokizono Takashi T Ozono Keiichi K Sakai Norio N
Human genome variation 20181005
Globoid-cell leukodystrophy is an autosomal-recessive lysosomal storage disorder. Single-base substitutions and small indel mutations in the <i>GALC</i> gene are common in Japanese patients. In this study, we identified three novel deletions, in exons 1, 8, and 11-12, in three patients using Multiplex Ligation-dependent Probe Amplification. We suggest that some patients in whom no or only a single pathogenic mutation is detected by Sanger sequencing may have exon deletions. ...[more]
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