Comprehensive genomic analysis identified novel LAMA2 variants in a patient with atypical mild motor developmental delay and leukodystrophy-like MRI findings.
Expands LAMA2 spectrum to milder presentations with white matter changes; leaves open validation in larger cohorts.
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.
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Yamamoto‐Shimojima et al. (2020) studied this question.
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