Mutation

Salmonella enterica Typhimurium fljBA operon stability: implications regarding the origin of Salmonella enterica I 4,[5],12:i:-

M. P. O. Tomiyama, Werle, C. H., Milanez, G. P., Nóbrega, D. B., Pereira, J. P., Calarga, A. P., Flores, F., and Brocchi, M., “Salmonella enterica Typhimurium fljBA operon stability: implications regarding the origin of Salmonella enterica I 4,[5],12:i:-”, vol. 14, pp. 19057-19065, 2015.

Salmonella enterica subsp enterica serovar 4,5,12:i:- has been responsible for many recent Salmonella outbreaks worldwide. Several studies indicate that this serovar originated from S. enterica subsp enterica serovar Typhimurium, by the loss of the flagellar phase II gene (fljB) and adjacent sequences. However, at least two different clones of S. enterica 4,5,12:i:- exist that differs in the molecular events responsible for fljB deletion.

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree

X. Jin, Chen, Y. H., Liu, Z., Deng, Y., Li, N. N., Huang, H., Qi, M., Yi, X., and Zhu, J., “Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree”, vol. 14, pp. 10961-10972, 2015.

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent cause of ADOA. The purpose of this study was to identify the underlying genetic defect in a Chinese pedigree with ADOA.

A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease

Y. W. Wang, Han, W. T., Jiang, M., Lu, C. X., Li, X. F., Zhang, X., and Li, J. X., “A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease”, vol. 11. pp. 1454-1459, 2012.

Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in which the phenotype of affected individuals varied, and the weakness condition of the distal legs in males, except the proband, was less severe than in females in this family.

A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia

D. F. Coutinho, Diniz, C., Filgueiras, R. L. D., Baptista, R. L. R., Ayres-Silva, J. P., Monte-Mór, B. C. R., Bonamino, M. H., and Zalcberg, I. R., “A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia”, vol. 12. pp. 5858-5862, 2013.

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic regulation, have been reported in about 20% of adult patients with myelodysplastic syndrome.

A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex

G. - X. Wang, Wang, D. - W., Zhao, J. - S., Wang, S. - F., and Sun, R. - P., “A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex”, vol. 10. pp. 107-113, 2011.

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed subependymal nodules along the lateral walls of the lateral ventricles. The TSC1 and TSC2 genes were studied by PCR and direct sequencing of the entire coding region and exon-intron boundaries of these genes.

Pages

Subscribe to Mutation