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Subcortical band heterotopia (SHB) is a rare severe brain developmental malformation caused by deficient neuronal migration during the development of cerebral cortex. Here, a human induced pluripotent stem cell (iPSCs) line was established from a 4-year-1-month-old girl with SHB carrying a heterozygous mutation (c.568A > G, p.K190E) in DCX. The generated iPSC line showed the ability to differentiate into three lineages in vitro and was confirmed by pluripotency markers and the original gene mutation.

AUTS2 syndrome is a neurodevelopmental disorder caused by pathogenic variants and deletions of the AUTS2 gene, resulting in intellectual disability, microcephaly, and other phenotypes. Here, we generated a human induced pluripotent stem cell (iPSC) line from a 21-month-old boy with AUTS2 syndrome caused by a heterozygous mutation (c.1486C > T, p.Q496X) in the AUTS2 gene. The iPSCs had normal morphology and karyotype, expressed pluripotency markers, showed differentiation potential in vitro, and carried the AUTS2 gene mutation.

Introduction: Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited. Methods: The detailed clinical and genetic features of two pediatric SBH with DCX mutations were analyzed. The available literature on DCX mutations was reviewed. Results: Both patients were girls with varying degrees of developmental delay. Patient 1 was short in stature with peculiar facial features. Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2. We reviewed all the available literature regarding DCX mutations. A total of 153 different mutations have been reported, with the majority of 99 (64.7 %) being missense mutations. Conclusion: Our study expanded the mutational spectrum of DCX, which has important implications for the study of genotype-phenotype correlations. Furthermore, it provided insights to better understand SBH and genetic counseling.

In this study, peripheral blood mononuclear cells were isolated from a young male patient bearing a histone deacetyl-lase 8 (HDAC8) mutation and suffering from Cornelia de Lange Syndrome verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, and expressed pluripotent stem cell markers at the mRNA and protein level. The iPSCs also showed differentiative capacity in vitro, and a normal karyotype. In addition, the established iPSCs still carried the HDAC8 mutation observed in the donor tissue.

The thermodynamics of five Al3Er compounds were investigated through first-principles density-functional theory (DFT) and experimental analysis. The Al3Er compounds with Al3Ho.hR20 (prototype Al3Ho, Pearson symbol hR20), Cu3Au.cP4, AlNd3.hP8, Ni3Ti.hP16 and Al3Gd.hR12 structures exhibited formation energies of −0.412(−0.417), −0.411(−0.416), −0.400(−0.413), −0.399(−0.345) and −0.342(−0.345) meV/atom when using DFT with “standard” potential (“frozen core” potential) of Er. The results indicated that the Al3Ho.hR20 structure was the thermodynamic stable phase and the other structures were metastable. The formation energy of Cu3Au.cP4 structure was only 1 meV/atom less than that of Al3Ho.hR20. Experimentally, the Al-30 wt.% Er alloys were cooled from 900 °C to 500 °C at the rate of 5 ± 2 °C/h and 60 ± 2 °C/h, respectively. The corresponding XRD analysis showed that the Al3Ho.hR20 was formed at the cooling rate of 5 ± 2 °C/h and the Cu3Au.cP4 was formed at the cooling rate of 60 ± 2 °C/h, which indicated that the Al3Ho.hR20 was in a thermodynamic stable phase and the Cu3Au.cP4 was in a metastable phase with high stability. The structural analysis indicated that the tiny energy difference between Al3Ho.hR20 and Cu3Au.cP4 might be attributed to a similar structure with varied stacking sequences.