Mutation

Prognostic implication of molecular aberrations in cytogenetically normal acute myeloid leukemia patients receiving allogeneic hematopoietic stem cell transplantation

Y. C. Liu, Hsiao, H. H., Lin, P. M., Yang, W. C., Chang, C. S., Liu, T. C., Hsu, J. F., Yang, M. Y., and Lin, S. F., Prognostic implication of molecular aberrations in cytogenetically normal acute myeloid leukemia patients receiving allogeneic hematopoietic stem cell transplantation, vol. 12, pp. 5414-5423, 2013.

Different molecular aberrations can be discriminated into certain prognostic subgroups in cytogenetically normal acute myeloid leukemia (CN-AML) patients but their impact on allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains controversial and studies from Asian populations are lacking. Forty-two adult non-M3 AML patients receiving allo-HSCT from 2002 to 2009 in southern Taiwan were retrospectively reviewed for survey, 23 (54.7%) of whom were CN-AML. NPM1, FLT3-ITD, and CEBPA were analyzed.

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

A. G. Zamani, Acar, A., and Yildirim, M. S., Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system, vol. 12, pp. 5152-5159, 2013.

The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed.

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.

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Y. H. Yang, Zhao, F., Feng, D. N., Wang, J. J., Wang, C. F., Huang, J., Nie, X. J., Xia, G. Z., Chen, G. M., and Yu, Z. H., Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome, vol. 12, pp. 6184-6191, 2013.

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated that in Chinese girls, the detection rate of WT1 mutations is 16.7% for early onset isolated nephrotic syndrome.

A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia

G. X. Wang, Sun, R. P., and Song, F. L., A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia, vol. 9, pp. 41-47, 2010.

Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies. X-ray analysis showed aplasia of the clavicles.

Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems

O. F. Khabour, Mesmar, F. S., Al-Tamimi, F., Al-Batayneh, O. B., and Owais, A. I., Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems, vol. 9, pp. 941-948, 2010.

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arginine to cysteine in the extracellular domain of ectodysplasin-A, a protein encoded by the EDA gene.

Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta

Z. Yang, Ke, Z. F., Zeng, C., Wang, Z., Shi, H. J., and Wang, L. T., Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta, vol. 10, pp. 177-185, 2011.

Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been reported in Chinese people. We report on five unrelated families and three sporadic cases. The mutations were detected by PCR and direct sequencing. Four mutations in COL1A1 and one in COL1A2 were found, among which three mutations were previously unreported.

Analysis of polymorphism based on SSCP markers in gamma-irradiated (Co60) grape (Vitis vinifera) varieties

D. D. Karataş, Kunter, B., Coppola, G., and Velasco, R., Analysis of polymorphism based on SSCP markers in gamma-irradiated (Co60) grape (Vitis vinifera) varieties, vol. 9, pp. 2357-2363, 2010.

The effects of induced mutation produced by five different doses of gamma irradiation (20, 25, 30, 40, and 45 Gy) were determined using molecular approaches in Vitis vinifera cultivars, namely Thompson Seedless (Sultani Çekirdeksiz) (progenitor of seedless vinifera variety) and Kalecik Karası (one of the best quality wine grape variety of Turkey). Mutant candidates were selected through morphological observations of mutation-induced phenotypic changes during the first, second and third vegetation periods after radiation applications.

Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer

Y. Dodurga, Satiroglu-Tufan, N. L., Tataroglu, C., and Kesen, Z., Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer, vol. 10, pp. 86-95, 2011.

Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autosomal dominant human skeletal disorders and have some oncogenic effects.

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.

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