A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

Mutations in the DYNC1H1 gene are associated with both diseases in the central and peripheral nervous system. Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) is located on chromosome 14q32 with 78 exons that encode the heavy chain protein of the cytoplasmic dynein 1 motor protein complex [1]. This motor protein complex plays a vital role in the neurons guiding the retrograde axonal transport, the cell organelles transport along microtubules, the spindle pole organization and the nuclear migration during mitosis [1–2].