We report a patient diagnosed with a germ-cell tumor presenting with spinal muscular atrophy with lower limb predominance (SMA-LED) caused by a DYNC1H1 genetic variant. His clinical and electrophysiologic phenotype was compatible with SMA-LED. We identified a heterozygous missense variant (c.1793G>T) of DYNC1H1. This report expands the clinical spectrum of DYNC1H1-related disorders, and reinforces the importance of DYNC1H1 in both central and peripheral neuronal functions. We suggest that germ-cell tumors should be considered as a possible phenotype of DYNC1H1-related disorders.

Citations

• Osteosarcoma in an Adolescent With Germline DYNC1H1‐Related Disorder: A Novel Association With Whole Genome and Transcriptome Tumour Analysis
  Cameron J. Grisdale, Rachel V. Silverberg, Bilal M. Marwa, Trevor J. Loback, Alysa A. Poulin, Kaveer K. Chatoorgoon, Saima Alvi, Shahrad R. Rassekh, Rebecca J. Deyell, Paul R. D'Alessandro
  Pediatric Blood & Cancer.2025;[Epub]     CrossRef