Duplication in the microtubule-actin cross-linking factor 1 gene causes a novel neuromuscular condition.

ABSTRACT: Spectrins and plakins are important communicators linking cytoskeletal components to each other and to cellular junctions. Microtubule-actin cross-linking factor 1 (MACF1) belongs to the spectraplakin family and is involved in control of microtubule dynamics. Complete knock out of MACF1 in mice is associated with developmental retardation and embryonic lethality. Here we present a family with a novel neuromuscular condition. Genetic analyses show a heterozygous duplication resulting in reduced MACF1 gene product. The functional consequence is affected motility observed as periodic hypotonia, lax muscles and diminished motor skills, with heterogeneous presentation among the affected family members. To corroborate these findings we used RNA interference to knock down the VAB-10 locus contain

SUBMITTER: Jorgensen LH 

PROVIDER: S-EPMC4046130 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature