Collection of previous publications
PubMed, Web of Science, CNKI and Wanfang Data were searched, applying
the following search terms from January 1980 to April 2021: (mutation OR
variant) AND (DYNC1H1 AND (”Charcot-Marie-Tooth Disease” OR ”CMT” OR
”hereditary motor and sensory neuropathy” OR ”HMSN” OR ”spinal muscular
atrophy” OR ”SMA”)). Human Gene Mutation Database (HGMD)
(http://www.hgmd.cf.ac.uk/), Online Mendelian Inheritance in Man (OMIM)
(https://www.omim.org/) and Ensembl
(http://uswest.ensembl.org/index.html) were also searched with the
search term DYNC1H1 . All resulting publications were carefully
screened. Publications that met the following criteria were included:
(1) were studies involving patients with neuromuscular diseases,
typically SMA-LED and CMT2O, (2) provided the exact mutation inDYNC1H1 , and (3) full-text available. We also excluded
publications that: (1) were reviews, (2) were not case reports, (3) did
not involve neuromuscular diseases and (4) did not focus onDYNC1H1 variants. Among included publications, families or a
single patient that had no detailed description of clinical phenotypes
were also excluded from this study to improve the quality for analysis.
Clinical and genetic data were collected from each reported patient,
including age, gender, origin, clinical manifestations, disease onset
age, mutation location and variant type, etc. All the variants were
checked or adjusted to ensure that they matched with reference
transcript NM_001376.5 for DYNC1H1 . All the processes were
performed independently by two authors and any discrepancy in the
assessment would be resolved by consensus.