Mutation

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria

X. D. Kong, Shi, H. R., Liu, N., Wu, Q. H., Xu, X. J., Zhao, Z. H., Lu, N., Li-Ling, J., and Luo, D., Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria, vol. 13, pp. 8234-8240, 2014.

Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous disorder caused mainly by deficiency of methylmalonyl-CoA mutase. In the present study, we analyzed MUT gene mutations in 3 Chinese couples with a birth history of isolated MMA. We also provided prenatal diagnoses for the detected mutation. Exons and exon-intron boundaries of the MUT gene were analyzed by polymerase chain reaction and direct sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of parents were determined.

Associations between clinical characteristics and oncogene expression in patients with non-small cell lung cancer

Y. Han, Yu, D. P., Zhou, S. J., Song, X. Y., Li, Y. S., Xiao, N., Liu, Z. D., Sun, X. J., Zhao, Q. Y., and Liu, S. K., Associations between clinical characteristics and oncogene expression in patients with non-small cell lung cancer, vol. 13, pp. 8913-8924, 2014.

More than 40 oncogenes associated with non-small cell lung cancer (NSCLC) have been identified with varied gene expression. The correlations between specific clinical characteristics and oncogene expression in NSCLC patients were examined. From October 2011 to September 2012, a total of 60 patients with NSCLC (male:female, 34:24; mean age, 59.5 ± 10.6 years; age range, 31-81 years) were diagnosed and evaluated for treatment with radical resection at a single facility.

Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome

D. N. Feng, Yang, Y. H., Wang, D. J., Meng, D. C., Fu, R., Wang, J. J., and Yu, Z. H., Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome, vol. 13, pp. 9514-9522, 2014.

Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to immunosuppressive agents and 20 SRNS controls who exhibited a response to prolonged steroid or immunosuppressive treatment and achieved complete remission.

A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1

X. L. Wang, Wang, D. D., Gu, J. Q., Zhang, N., and Shan, Z. Y., A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1, vol. 13, pp. 9472-9476, 2014.

Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skeletal malformations. Coding regions of 12 genes that have been implicated in nIHH were analyzed by direct sequencing.

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas

Z. L. Li, Guan, H. H., Xiao, X. M., Hui, Y., Jia, W. X., Yu, R. X., Chen, H., and Li, C. R., Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas, vol. 13, pp. 9650-9655, 2014.

Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are familial, and germline CYLD mutations could be detected in some patients.

A new single nucleotide polymorphism in the ryanodine gene of chicken skeletal muscle

A. A. Droval, Binneck, E., Marin, S. R. R., Paião, F. G., Oba, A., Nepomuceno, A. L., and Shimokomaki, M., A new single nucleotide polymorphism in the ryanodine gene of chicken skeletal muscle, vol. 11, pp. 821-829, 2012.

Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a fragment of hotspot region 2, a region with a high density of mutations in other species. Total blood DNA was extracted from 50 birds, 25 that had PSE meat and 25 normal chickens.

Absence of SH2B3 mutation in nonobese diabetic mice

Y. J. Li, Li, X. Y., Guo, X. R., Li, Y., Shen, B. F., Shi, Y. C., and Zhang, J. Y., Absence of SH2B3 mutation in nonobese diabetic mice, vol. 11, pp. 1266-1271, 2012.

Type 1 diabetes is a chronic progressive autoimmune disease characterized by mononuclear cell infiltration, with subsequent destruction of insulin-producing β-cells. Studies have identified strong associations between type 1 diabetes and several chromosome regions, including 12q24. Association between type 1 diabetes and 12q24 arises from SNP rs3184504; rs3184504 is a nonsynonymous SNP in exon 3 of SH2B3 (also known as LNK).

Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey

G. G. Ceylan, Ceylan, C., and Ozturk, E., Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey, vol. 11, pp. 1185-1194, 2012.

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean fever patients.

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.

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

M. Li, Liang, J. Y., Sun, Z. H., Zhang, H., and Yao, Z. R., Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis, vol. 11, pp. 2156-2162, 2012.

Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine kinase receptor type 1 (NTRK1; MIM# 191315). We screened two Chinese CIPA cases for mutations in the NTRK1 gene and examined their phenotype. Two novel mutations of the NTRK1 gene and two known mutations were identified.

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