biostudies-literatureUnknown11Yildiz BPhelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle hypotonia. PMS is caused by a heterozygous deletion of the distal end of chromosome 22q13.3 or <i>SHANK3</i> mutations. We analyzed striated muscles of newborn <i>Shank3Δ11(-/-)</i> animals and found a significant enlargement of the sarcoplasmic reticulum as previously seen in adult <i>Shank3Δ11(-/-)</i> mice, indicative of a Shank3-dependent and not compensatory mechanism for this structural alteration. We analyzed transcriptional differences by RNA-sequencing of muscle tissue of neonatal <i>Shank3Δ11(-/-)</i> mice and compared those to <Frontiers in cell and developmental biology1243299https://www.ebi.ac.uk/biostudies/studies/S-EPMC10511643biostudies-literatureShank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.PMC10511643Lutz AKMulaw MBoeckers TMBockmann JSchiedt LJesse SYildiz BfalseShank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle hypotonia. PMS is caused by a heterozygous deletion of the distal end of chromosome 22q13.3 or <i>SHANK3</i> mutations. We analyzed striated muscles of newborn <i>Shank3Δ11(-/-)</i> animals and found a significant enlargement of the sarcoplasmic reticulum as previously seen in adult <i>Shank3Δ11(-/-)</i> mice, indicative of a Shank3-dependent and not compensatory mechanism for this structural alteration. We analyzed transcriptional differences by RNA-sequencing of muscle tissue of neonatal <i>Shank3Δ11(-/-)</i> mice and compared those to <2023-01-01T00:00:00Z20232025-06-25T03:04:25.198Z2025-04-06T01:23:44.53ZS-EPMC105116433774529810.3389/fcell.2023.1243299