ArticleEuropean journal of human genetics : EJHG2026
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.
Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Excitation-contraction (EC) coupling is an essential process for skeletal muscle function. Pathogenic variants in different EC coupling components have previously been associated with various neuromuscular disorders. In this study we aimed to identify the genetic etiology of a muscular condition characterized by early-onset muscle weakness, elevated CK, ptosis and low body weight, which was observed in three individuals from two unrelated consanguineous families. Exome sequencing (ES) performed in multiple individuals of one family, and ES in combination with SNP array-based homozygosity mapping in the proband of the other family, revealed different homozygous loss-of-function variants in the second exon of CACNB1 in the affected individuals from each family. CACNB1 encodes the β1 subunit of the skeletal muscle dihydropyridine receptor (DHPR), a voltage-gated Ca
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