BackgroundPathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies. However, the direct clinical relevance of ANKRD11 mutation with short stature is yet unknown.MethodsHere, we report a Chinese boy with idiopathic short stature (ISS) based on clinical and genetic characteristics. Comprehensive medical evaluations were performed including metabolic studies, endocrine function tests, bone X‐rays, and echocardiography. Whole‐exome and Sanger sequencing was used to detect and confirm genetic mutations associated with short stature in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools and repositories of sequence variation. Twenty‐four months follow‐up was performed to observe the growth rate of the patient treated with recombinant human growth hormone (GH).ResultsOne heterozygous point mutation (c.2579C>T) was confirmed in the ANKRD11 gene of the patient and inherited from his mother. This mutation site was located within the highly conservative region of ANKRD11 protein and predicted to be possibly damaging in several in silico prediction programs and repositories of sequence variation. Additionally, patient underwent GH replacement therapy for 24 months exhibited good response to the treatment.ConclusionA heterozygous point mutation of AKNRD11 gene was identified in a Chinese patient with short stature phenotype. The patient was treated effectively with GH supplementation.

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A novel multilayer, solar selective absorbing coating that contains lamellar-distributed nanoparticles in its cermet-absorbing sublayers has been fabricated using ion-source-assisted cathodic arc plating. The multilayer coating shows an outstanding selectivity, i.e., a high solar absorptance (0.909), yet it has a low thermal emittance (0.163). More importantly, the long-term thermal stability tests demonstrate that the lamellar-structured absorbers can remain stable, even when annealed at 500 °C for 1000 h in ambient air. The coating’s enhanced selectivity and thermal stability were attributed to the formation of lamellar-distributed nanoparticles in the absorbing sublayer, which form many asymmetric Fabry–Pérot cavities. In this case, the light would be held in the Fabry–Pérot cavities and thus boost the absorptivity due to the increase in interaction time. Meanwhile, the unique distribution of the nanoparticles is also beneficial for enhancing the surface plasmon resonance absorption, and thus promoting the increase in solar selectivity. Furthermore, the excellent thermal stability is ascribed to the existence of amorphous matrices, which separate and seal the nanoparticles into honeycomb shells. In this case, the atomic diffusion in the nanoparticles would be significantly retarded as the amorphous matrices can remain stable below the crystallization temperatures, which can effectively slow down the growth and agglomeration of the nanoparticles.