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Background  Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known laboratory assays do not meet the precision requirements for clinical diagnosis. Here, we have constructed a targeted next-generation sequencing (NGS) panel of selected genes that are suspected to be associated with dwarfism for genetic screening.    Methods  Genetic screening of 91 children with short stature of unknown etiology was performed with the help of the NGS panel. All the coding regions and exon-intron boundaries of 166 genes were included in the panel. To clarify the pathogenicity of these mutations, their clinical data were reviewed and analyzed.    Results  The assay identified p.A72G, p.I282V, and p.P491S variants of the  PTPN11  gene and a p.I437T variant of the  SOS1  gene in 4 cases with Noonan syndrome. A frameshift mutation (p.D2407fs) of the  ACAN  gene was identified in a case of idiopathic short stature with moderately advanced bone age. A p.R904C variant of the  COL2A1  gene was found in a patient, who was accordingly diagnosed with Stickler syndrome. Severe short stature without limb deformity was associated with a p.G11A variant of  HOXD13 . In addition, we evaluated evidence that a p.D401N variant of the  COMP  gene may cause multiple epiphyseal dysplasia.    Conclusions  Our findings suggest that syndromes, particularly Noonan syndrome, may be overlooked due to atypical clinical features. This gene panel has been verified to be effective for the rapid screening of genetic etiologies associated with short stature and for guiding precision medicine-based clinical management.

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel