Muscular dystrophy with hearing loss and infertility linked to GGPS1 mutations


  • Biallelic, highly specific missense mutations in GGPS1 cause a distinctive syndrome of early onset muscular dystrophy combined with hearing loss and primary ovarian insufficiency.

Why this matters

    This is the first study to link specific GGPS1 mutations with this triad of clinical findings.  Geranylgeranyl pyrophosphate synthetase plays a key role in numerous cellular processes, and further understanding of new mechanisms and pathways could enable therapeutic intervention in this unique form of muscular dystrophy.