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Background Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and the screening of GSs by facial recognition technology has become feasible. This study constructed an automatic facial recognition model for the identification of children with GSs. Results A total of 456 frontal facial photos were collected from 228 children with GSs and 228 healthy children in Guangdong Provincial People's Hospital from Jun 2016 to Jan 2021. Only one frontal facial image was selected for each participant. The VGG-16 network (named after its proposal lab, Visual Geometry Group from Oxford University) was pretrained by transfer learning methods, and a facial recognition model based on the VGG-16 architecture was constructed. The performance of the VGG-16 model was evaluated by five-fold cross-validation. Comparison of VGG-16 model to five physicians were also performed. The VGG-16 model achieved the highest accuracy of 0.8860 ± 0.0211, specificity of 0.9124 ± 0.0308, recall of 0.8597 ± 0.0190, F1-score of 0.8829 ± 0.0215 and an area under the receiver operating characteristic curve of 0.9443 ± 0.0276 (95% confidence interval: 0.9210–0.9620) for GS screening, which was significantly higher than that achieved by human experts. Conclusions This study highlighted the feasibility of facial recognition technology for GSs identification. The VGG-16 recognition model can play a prominent role in GSs screening in clinical practice.

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The cardiomyopathy associated 5 (CMYA5) gene was also called TRIM76, which was belonged to the tripartite motif super family of proteins (TRIM). It was a direct transcriptional target for MEF2A and it played an important role in myofibrillogenesis. In the present study, a 12056 bp cDNA sequence of the porcine CMYA5 gene was obtained by RT-PCR. The sequence encoded a large protein consisting of 4003 amino acids and the carboxyl terminus of the predicted CMYA5 protein comprised of a B-box coiled-coil, two fibronectin type III (FN3) repeats, and SPRY domains. The porcine CMYA5 gene was assigned to chromosome 2q21-24 by using the radiation hybrid (IMpRH) panel, and it was significantly linked to microsatellite Sw1602 with LOD scores of 6.74. Semi-quantitative RT-PCR revealed that the porcine CMYA5 gene was broadly expressed in all seven tissues(heart, liver, spleen, lung, kidney, skeletal muscle and adipose)harvested from different developmental stages(new born, five weeks and adult tongcheng pigs), with a high level in heart and skeletal muscle. One SNP (A7189C), leading to the amino acid alteration from the Ile residue to the Leu residue, was found and detected by BspTI PCR-restriction fragment length polymorphism. The association analysis revealed that the substitution of A7189C had significant associations with the percentage of ham (p < 0.05), water loss (p < 0.01) and intramuscular fat (p < 0.05). These results provide the evidence that the porcine CMYA5 gene can act as a potential candidate gene affecting pig meat quality.