It is a study on IRF6 sequencing of six Van der Woude Syndrome families in the Chinese Han population. And four novel variants were detected in the study.

We identified significant reduction of miR-23a-3p, miR-130a-5p, miR-144-3p, miR-148a-3p, and miR-152-3p in the plasma of the patients compared with the controls. MiR-130a-5p, miR-144-3p, and miR-152-3p were downexpressed in BC tissues as well as plasma in silico analysis. The relative expression of these five miRNAs was closely associated with the clinicopathologic features of the BC such as the expression of ER, PR, and HER2, histological tumor grades, and lymph node metastasis.

We investigated associations of CYP2B6 c.516G>T polymorphism with acute leukemias (AL) in Han Chinese. CYP2B6 polymorphic genotypes and T alleles were associated with fusion gene-positive AL. These AL patients also had a poor prognosis after the first course of chemotherapy.

Nonsense suppression therapy partially restored PAX6 expression in patient-derived cells carrying p.Tyr234* mutation. Both ataluren (PTC124) and geneticin (G418) restored the expression of PAX6 protein to about 65%-70% of healthy level by Western blot.

Clinical, molecular, and glycobiological findings in three additional patients from two families with musculocontractural Ehlers–Danlos syndrome (mcEDS-DSE) are described. McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE.

In this study, we aimed to unravel the genetic factors associated with miRNA expression in regulating the SOX2-mediated cisplatin resistance in SCLC. Cisplatin-resistant SOX2 overexpressing DMS114 cell lines were successfully developed, which showed a statistically significant increase in SOX2 expression by qPCR and western blot.

Our study identified a novel SNP of the POR gene, which affected amlodipine metabolism and may reduce interindividual variation in response to amlodipine. Rs4732511 and rs7796654 SNPs of the POR gene showed statistically significant difference in the Cmax of amlodipine. After adjusting for CYP3A effects, rs4732511 was significantly associated with the difference in Cmax value.

Different genetic aspects and environmental factors are involved in the pathophysiology of Type1 diabetes mellitus. About 20 genes are associated with this disease in which the most common is the different combination of haplotype DRB1-DQA1-DQB1 present at HLA gene. At HLA-DQB1, there are some SNPs which are associated with T1DM

Nonimmunological hydrops fetalis (NIHF) is still a challenging diagnosis. The success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. We report a premature with NIHF. The hydrops panel revealed Noonan syndrome (NS) with a mutation in PTPN11 c.218C>T (p.Thr73Ile). The variant of c.218C>T (p.Thr73Ile) has not yet been described in literature relating to NIHF. Only a few case reports of this variant are known.

Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections, with variable expressivity and incomplete penetrance. To investigate the clinical variability observed within SMAD3 patients, we reviewed the data of 22 new patients from our Centre and of 133 patients reported in the literature. We first aimed to delineate an estimated frequency of the main clinical signs associated with SMAD3 pathogenic variants and, then, to look for genotype-phenotype correlations. We showed herein the absence of correlation between the SMAD3 variant type and the occurrence of an aortic phenotype in patients. This report brings additional data for the genotype-phenotype correlations of SMAD3 variants and the need to explore in more detail the effects of genetic modifiers that could influence the phenotype.

Our study achieved a diagnostic yield from WES of 26% (13/50). These cases were diagnostically challenging as prior investigations failed to give clues on specific genetic diagnosis. Our findings are compatible to previous studies observing the diagnostic yield tends to be lower in cohorts that have already undergone prior extensive evaluations.

This is the first molecular characterization of patients with Hemophilia B in Colombia. Using Sanger sequencing we found the patogenic variant in all patients. One large deletion of exon 3 and 4 hasn't been reported previously in international databases.

We describe the clinical, immunological, and genetic analyses of a Vietnamese patient presenting with typical and atypical symptoms of common variable immune deficiency. Whole exome sequencing revealed novel compound stop-gain mutations of LRBA. Our findings also expand the already broad range of known CVID clinical phenotypes and contribute to the understanding of phenotype–genotype correlation in LRBA deficiency.

We tested sTRAP to do some analysis on DNA variations in the cognate binding sites of specific transcription factors, for which there were the results of the experimental approaches, in the literature. At the same time, we compared the results of both of the procedures with the data of another bioinformatics model RAVEN, as an alternative one.

A 6-year-old boy with Barakat syndrome and early-onset hypercalciuria. One novel de novo variant in GATA3, and one novel variant in SLC34A3 inherited from symptomatic father.

The 47-autosomal InDel data in the five Chinese Northern Han populations of 535 unrelated individuals was first reported using the AGCU InDel 50 Kit. Our findings in the present study indicated that the 7-autosomal InDel panel was informative in the Northern Han populations and can be used as a potential and valuable tool for forensic identification and parentage tests. Population comparisons revealed that Northern Han populations showed genetically affinity with Chinese Han groups.

A pair siblings with Cockayne syndrome carrying two compound heterozygous mutations of ERCC8 gene (c.78-2(IVS1)A>T and c.1042-1(IVS10)G>A) with atypical feature s.

A man previously diagnosed with autism spectrum disorder secondary to intellectual disability, absent speech and repetitive behaviors was found to have homozygous pathogenic variants in TRAPPC9. In the context of the currently reported 48 known cases of TRAPPC9 pathogenic variants, his phenotype is consistent with previously reported phenotypes. Interestingly, it is found that, although the known pathogenic variants do not cluster in respect to location within the gene, the known cases all appears to be from a localized geographic area.

Spinal muscular atrophy with congenital bone fractures 2.

Congenital dyserythropoiesis anemia type Ia is a rare hereditary anemia. We applied whole exome sequencing in the genetic diagnosis of such a rare entity and confirmed this first case report in Taiwan.

Heritable factors for gastroschisis have remained unexplained as the low-frequency and rare variants have not yet been explored. Technological platforms such as NGS and WES could help in the understanding of the biological basis for gastroschisis. We identified multiple novel susceptibility genes involved in crucial GO biological processes possibly underlying gastroschisis. A joint “multifactorial model” is proposed for gastroschisis that might impact the normal ventral body wall closure as well as gastroschisis developmental process.

Thirty-eight Y-STR haplotype data in the Chinese Shaanxi Han population of 430 unrelated males were first reported using the Yfiler™ Platinum PCR Amplification Kit. Our findings in the present study indicated that the 38 Y-STR loci were informative in the Guanzhong Han population and can be used as a powerful tool in forensic practice and population genetic study. Shaanxi Han showed genetically affinity with Han ethnicity from neighboring Shanxi and Henan province, while far distant from Tibetans in China.

Mitochondrial DNA 14487T>C mutation at MT-ND6 is insufficient to cause mitochondrial deficienc. Some additional modifier genes may be involved in m.14487T>C-associated mitochondrial disease.

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg syndrome (WS). This study expands the database of both PAX10 and PAX3 mutations and improves our understanding of the causes of WS.