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Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non-syndromic postaxial polydactyly (PAP).After recruiting a three-generation family with PAP, whole-exome sequencing was performed to identify the causative variant. In silico analysis and Sanger sequencing were used to validate the variant.We identified a novel heterozygous frameshift variant (NM_000168.6:c.4540delG, p.Asp1514Thrfs*5) in the transcriptional activator (TA1) domain of the GLI3 gene.The novel frameshift variant identified in this study further confirms the relationship between non-syndromic PAP and GLI3 and extends the previously established mutational and phenotypic spectra of GLI3.

Background Polycystic kidney disease (PKD) is an inherited disease that is life‐threatening. Multiple cysts are present in the bilateral kidneys of PKD patients. The progressively enlarged cysts cause structural damage and loss of kidney function. Methods This study examined and analyzed 12 families with polycystic kidney disease. Whole exome sequencing (WES) or whole genome sequencing (WGS) of the probands was performed to detect the pathogenic genes. The candidate gene segments for lineal consanguinity in the family were amplified by the nest PCR followed by Sanger sequencing. The variants were assessed by pathogenic and conservational property prediction analysis and interpreted according to the American College of Medical Genetics and Genomics. Results Nine of the 12 pedigrees were identified the disease causing variants. Among them, four novel variants in PKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) were detected. After assessment, the four novel variants were considered to be pathogenic variants and cause autosomal dominant polycystic kidney disease in family. The detected variants were interpreted. Conclusion The four novel variants in PKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) are pathogenic variants and cause autosomal dominant polycystic kidney disease in family., This study examined and analyzed 12 families with polycystic kidney disease using whole exome sequencing or whole genome sequencing and several prediction tools. After assessment and interpretion, the four novel variants were considered to be pathogenic variants and cause autosomal dominant polycystic kidney disease in family. The present study enriched the knowledge of the pathogenicity for autosomal dominant polycystic kidney disease and would improve the understanding of this autosomal dominant disorder.

The effects of the content and position of shape memory alloy (SMA) wires on the mechanical properties and interlaminar fracture toughness of glass-fiber-reinforced epoxy (GF/epoxy) composite laminates are investigated. For this purpose, varying numbers of SMA wires are embedded in GF/epoxy composite laminates in different stacking sequences. The specimens are prepared by vacuum-assisted resin infusion (VARI) processing and are subjected to static tensile and three-point-bending tests. The results show that specimens with two SMA wires in the stacking sequence of [GF2/SMA/GF1/SMA/GF2] and four SMA wires in the stacking sequence of [GF4/SMA/GF2/SMA/GF4] exhibit optimal performance. The flexural strength of the optimal four-SMA-wire composite is lower than that of the pure GF/epoxy composite by 5.76% on average, and the flexural modulus is improved by 5.19%. Mode-I and II interlaminar fracture toughness tests using the SMA/GF/epoxy composite laminates in the stacking sequence of [GF4/SMA/GF2/SMA/GF4] are conducted to evaluate the mechanism responsible for decreasing the mechanical properties. Scanning electron microscopy (SEM) observations reveal that the main damage modes are matrix delamination, interfacial debonding, and fiber pullout.