Search

Synpolydactyly (SPD) is a digital malformation with the typical clinical phenotype of the webbing of 3/4 fingers and/or 4/5 toes, and combined with polydactyly. In this study, we investigated a Chinese family with SPD and genetic analysis found that all of the affected individuals in the family carry a heterozygous 11,451 bp microdeletion at chr2:176933872‐176945322 (GRCh37), which is located upstream of HOXD13 gene, the known disease gene for SPD1. All the affected individuals in the family carry the heterozygous deletion variant, and the variant co‐segregated with SPD in the family. Thus, we speculate that the 11,451 bp microdeletion is the disease‐causing variant in the family. To date, the microdeletion associating with SPD1 which we identified is the smallest deletion upstream of the HOXD13 gene and not altering the sequence of the HOXD13 gene. [ABSTRACT FROM AUTHOR]

Compared with pure literature, Liu Cixin's science fiction novels show a high degree of novelty. Due to his creative accommodation of third world experience and the Chinese cultural spirit of the 1950-70s, he is able to challenge the universal hegemony of the Enlightenment. The deep feelings of Liu Cixin's novels come from the "guerrilla" character of third world intellectuals who resisted colonization and guarded the country, a resistance derived from China's vanguard position in the third world independence movement. Liu Cixin's continuous writing of the story of weakness over power is not only a response to China's modern and contemporary situation, but also a borrowing from the revolutionary experience to imagine the possibility of another world for readers of the post-revolutionary era. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to identify the genetic cause of two cases of Kufs disease in the same family. The two affected individuals exhibited different levels of severity under magnetic resonance imaging (MRI)., Methods: Whole-exome sequencing was performed on affected individuals, and the candidate gene was confirmed by Sanger sequencing. Western blot analysis was used to evaluate the level of expression of CLN6 protein in 239T cells., Results: We identified a novel homozygous mutation of the CLN6 gene (c.14G>T, p.Arg5Leu) in a consanguineous Chinese family in which two people had Kufs disease. Both patients exhibited seizures and progressive psychomotor decline and mental deterioration without visual impairment. They had different ages of onset, although they carried the same missense mutation. The affected female showed a pronounced abnormal MRI signal in the bilateral hippocampus, while her younger brother only showed a very slight abnormal signal. Further study showed that this missense mutation could decrease the level of expression of CLN6 protein., Conclusions: A novel homozygous mutation of the CLN6 gene was identified, and patients with the same mutation showed different ages of onset and different levels of severity under MRI., Significance: Our study established that the same CLN6 mutation could produce different phenotypes in patients, and it has expanded the mutational and phenotypical spectrum of the CLN6 gene., (© 2022 S. Karger AG, Basel.)