Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as variants in cohesin complex genes, in which mutations in the NIPBL gene have been estimated to account for up to 80%. Our study included three Vietnamese patients with typical CdLS phenotypes. Whole exome sequencing revealed two known heterozygous mutations c.6697G>A (p.Val2233Met) and c.2602C>T (p.Arg868X), and a novel heterozygous mutation c.4504delG (p.Val1502fsX87) in the NIPBL gene of the three patients. In silico analyses of the identified mutations predicted possible damaging and truncating effects on the NIPBL protein. Inherited analyses in the patients' families showed that all of the mutations are de novo. Our results lead a definitive diagnosis of patients with CdLS and expand the spectrum of mutations in the NIPBL gene. These findings also confirm whole exome sequencing is an efficient tool for genetic screening of CdLS.
White spot syndrome virus (WSSV) is a dangerous virus causing great damage to shrimp farming. Many genes related to disease resistance mechanisms have been identified and studied. In this study, we amplified and sequenced nine fragments of DNA harboring SNPs in the genes involved in WSSV resistance of white-legged shrimp, Litopenaeous vannamei. Allele frequencies at the SNP loci were recorded and calculated by SPSS statistical software (version 22) in the study groups: the disease shrimp (were infected with WSSV and died) and the resistance shrimp (were infected with WSSV but survived). Six SNPs (in AIF, ALF1, HAE, P53, Rab5B, and TRAF6 genes) were in accordance with Hardy–Weinberg Equilibrium (HWE) (p > 0.05) while three SNPs (in ALF2, BGB, and CAL) were not (p < 0.05). For AIF and ALF1 genes, the frequencies of GG and CC genotypes were significantly different between two groups and were associated with an decreased resistance with WSSV compared to the AA and TT genotypes (p = 0.021 and p = 0.017, respectively). The G and C alleles were associated with a decreased resistance with WSSV (p = 0.000 and p = 0.001, respectively). For HAE gene, the frequency of TT genotype was significantly different between two groups and was associated with a increased resistance with WSSV compared to the TC+CC genotype (OR = 68.750; 95% CI: 11.462–412.381; p = 0.000). For Rab5B gene, the frequency of CC genotype was significantly different between two groups and was associated with an increased resistance with WSSV compared to the TT genotype in all three tested models (p<0.05). The C allele was associated with an increased resistance with WSSV (OR = 3.974; 95% CI: 1.754–9.003; p = 0.001). The above evaluation results suggested that the potential SNPs of these AIF, ALF1, HAE, and Rab5B genes can be used as the molecular markers for breeding selection the resistance to white spot disease in white-legged shrimp L. vannamei.
Fatty acid oxidation disorders (FAODS) consist of rare diseases which affect the energy production of the mitochrondria by disrupting the β-oxidation of fatty acid, resulting in energy deficiency and toxic acumulation in the patient’s body. Typical clinical symtoms of FAODS include rhabdomyolysis, myoglobinuria, cardiomyopathy, hypoketotic hypoglycemia and liver dysfunction on the newborns and could lead to mortality in most of the cases. Mutations occur in different genes in the enzymatic pathway of the mitochrondria may cause diffirent types of FAODS.The objective of this study was to screen and identify genetic mutations associated with fatty acid oxidation disorders in Vietnamese patients through whole exome sequencing analysis. The result revealed a reported homozygous c.199-10T>G mutation in the position of 10 nucleotides before the exon 3 of the SLC25A20 gene. The SLC25A20 gene encodes the carnitine acylcarnitine translocase (CACT), which plays an important role in transporting acylcarnitine and carnitine in the mitochondria. Genetic mutations in this gene often lead to carnitine-acylcarnitine translocase deficiency (CACTD) - a rare form of FAODs. By in silico analysis, the c.199-10T>G mutation was predicted as a splite site mutation that could lead to exon skipping during the creation of mature mRNA. Genetic analysis of the patient’s family showed that both parents had the mutation c.199-10T>G in heterozygous form. This result suggests that every mutant allele in the patient is inherited from parents. Our finding not only improved our understanding of the c.199-10T>G mutation in SLC25A20 gene of our patient but also provides important information for future research, diagnosis and genetic counseling of FAOS in Vietnamese patients.
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