Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian ...

Duplication of exon 2 is the most common single-exon duplication in the human DMD gene. It introduces a premature termination codon and results in the severe DMD phenotype. The authors showed in C2C12 ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...

Certain genetic mutations in patients with DMD influence the timing of ambulation loss, with exon 44 skipping, exons 3 through 7 deletions, and exon 2 duplications linked to delayed loss. The study's ...

We have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base pairs within exon ...

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