IndraLab

Statements

Mutated SLC26A2 activates SCN8A. 3 / 3
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"The phenotype severity of the reported family seems milder than MED caused by MATN3, COMP, and DTDST mutations, and more severe than in patients with mutations in genes encoding collagen type IX."
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"One of the affected family members had a double layered patella, which is frequently seen in patients with autosomal recessive MED caused by DTDST mutations and sporadically in the dominant form of MED caused by COL9A2 defect."
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"Double layered patella and hip dysplasia are the most common radiographic findings in a recessive form of MED caused by DTDST mutations."
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