A novel LDB3 (c.1720G>A) mutation causes myofibrillar myopathy

ZASP-MFM with novel LDB3 mutation

Abstract

Abstract

Background: Z-disc-associated, alternatively spliced, PDZ motif-containing protein-related myofibrillar myopathy (ZASP-MFM) is a rare autosomal dominant and late-onset distal myopathy with partial cardiomyopathy, which occurs because of lim domain-binding 3/Z band alternatively spliced PDZ-containing protein (LDB3/ZASP) mutations.

Methods: We describe the clinical, pathological, genetic findings, and muscle magnetic resonance imaging (MRI) changes in a Chinese pedigree with ZASP-MFM. Muscle biopsies, muscle MRI, and LDB3 gene sequence analysis were carried out.

Results: Muscle biopsies revealed the presence of muscular dystrophy-like changes and myogenic changes in the proband, and the MR images of lower limbs showed the symmetrical involvement of anterior compartment muscles of the thigh and posterior compartment muscles of the calf. Gene analysis for LDB3 revealed a novel heterozygous mutation c.1720G>A in the pedigree.

Conclusion: A novel point mutation in LDB3 was detected, expanding the spectrum of LDB3 mutations known to be associated with ZASP-MFM.

Keywords: Lim domain-binding 3 (LDB3); Muscle biopsy; Myofibrillar myopathies; Muscle MRI; Z band alternatively spliced PDZ-containing protein (ZASP)