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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]

Background and Aim: Long noncoding RNA TRPM2‐AS has emerged as a novel regulator in cancer initiation and progression of various cancers. However, the function and underlying mechanism of TRPM2‐AS in the progression of gastric cancer (GC) remain poorly understood. Methods: GEO and TCGA databases were used for isolation of differential lncRNA expression. TRPM2‐AS expression levels in GC tissues and cells were measured by quantitative polymerase chain reaction method. TRPM2‐AS subcellular location was detected by fluorescence in situ hybridization analysis. The functional roles of TRPM2‐AS in cells were analyzed by loss and gain function assays. Results: By using bioinformatics and quantitative polymerase chain reaction methods, TRPM2‐AS expression levels were proved to be upregulated in GSE70880 dataset, TCGA database, and 26 GC tissues, which was partly induced by SP1. The results of clinical assays showed that TRPM2‐AS could be an indicator for early‐stage GC diagnosis. Fluorescence in situ hybridization analysis showed that TRPM2‐AS was located in both nucleus and cytoplasm. Functional experiments displayed that knockdown of TRPM2‐AS inhibited proliferation, migration, and invasion in GC cells. Furthermore, depression of TRPM2‐AS suppressed cell growth though promotion of cell apoptosis. The expression levels of cleaved PARP, caspase 9, caspase 3, and Bax were significantly increased in BGC823 with TRPM2‐AS knockdown. In addition, knockdown of TRPM2‐AS reduced and phosphorylate signal transducer and activator of transcription 3 and increased and phosphorylate p38 mitogen‐activated protein kinase. Conclusions: This study demonstrated that SP1‐regulated TRPM2‐AS is involved in GC cell apoptosis probably via p38 mitogen‐activated protein kinase and signal transducer and activator of transcription 3 pathways, indicating that TRPM2‐AS might be a potential therapeutic target in GC. [ABSTRACT FROM AUTHOR]

Background: Male infertility is a major issue in human reproduction health, yet known genetic factors are only responsible for a small fraction of cases. TSGA10 is a testis‐specific protein that is highly conserved among different species. A previous study has reported a homozygous mutation in TSGA10 in a male infertile patient; however, function analysis of Tsga10 genes in knockout mice has not yet been undertaken. Objectives: The aim of the present work was to analyse the function of TSGA10 protein in the spermatogenesis of Tsga10+/− mice. Materials and methods: Tsga10+/− mice were generated by CRISPR/Cas9 technology, in vitro fertilization (IVF), western blot, co‐immunoprecipitation and other methods were used to the function analysis. Results: Heterozygous Tsga10 male mice created by CRISPR/Cas9 were infertile and presented significantly reduced sperm motility because of disordered mitochondrial sheath formation. Furthermore, TSGA10 can interact with GRP78 and NSUN2, which are associated with peri‐implantation lethality and the gonadotropin‐releasing hormone (GnRH) network. Discussion and conclusion: We demonstrate that deficiency of Tsga10 gene can lead to male infertility in mice. TSGA10 is involved in the correct arrangement of mitochondrial sheath in spermatozoa. Future studies on TSGA10 include an in‐depth exploration of the underlying mechanisms of TSGA10 in spermatogenesis, early embryonic development and GnRH network. [ABSTRACT FROM AUTHOR]

Background: X‐linked intellectual disability type Nascimento, also known as UBE2A deficiency syndrome, is an intellectual disability syndrome characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities. The syndrome is caused by mutations of the UBE2A gene, or larger deletions of Xq24 encompassing UBE2A. Methods: We report the case of a 19‐year‐old male with UBE2A deficiency syndrome, who showed severe intellectual disability and seizures. Whole exome sequencing and Sanger sequencing were used to identify the disease‐causing mutations in this patient. Results: A novel hemizygous missense UBE2A mutation (c.TAT245TGT, p.Tyr82Cys) was identified in our patient. The heterozygous missense UBE2A mutation was identified in his mother, although not in his father or sister. Conclusions: The present study identified a novel UBE2A mutation in a patient with severe intellectual disability and seizures. Our findings expand the mutational spectrum of the UBE2A gene. [ABSTRACT FROM AUTHOR]