Novel LAMA2 variants identified in a patient with white matter abnormalities.
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ABSTRACT:
SUBMITTER: Yamamoto-Shimojima K
PROVIDER: S-EPMC7248065 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Novel <i>LAMA2</i> variants identified in a patient with white matter abnormalities.
Yamamoto-Shimojima Keiko K Ono Hiroaki H Imaizumi Taichi T Yamamoto Toshiyuki T
Human genome variation 20200526
Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities. ...[more]
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