Mutation

Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome

Y. Yang, Zhao, F., Tu, X., Yu, Z., Yang, Y., Zhao, F., Tu, X., and Yu, Z., Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome, vol. 15, p. -, 2016.

Mutations in the Wilms’ tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant nephrotic syndrome, but, recently, four boys with isolated nephrotic syndrome were identified to have WT1 mutations.

Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation

N. Zhao, Sui, Y., Li, X. F., Liu, W., Lu, Y. P., Feng, W. H., Ma, C., Wang, Y. W., Bao, H. X., Huang, F., Wang, H., Yi, D. X., Han, W. T., and Jiang, M., Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation, vol. 14, pp. 14690-14697, 2015.

We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) sequencing was used to detect gene mutations. To confirm the influence of a splice-site mutation on mRNA, we used reverse transcription-PCR and direct sequencing.

Prenatal diagnosis of Chinese families with phenylketonuria

N. Liu, Kong, X. D., Zhao, D. H., Wu, Q. H., Li, X. L., Guo, H. F., Cui, L. X., Jiang, M., and Shi, H. R., Prenatal diagnosis of Chinese families with phenylketonuria, vol. 14, pp. 14615-14628, 2015.

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the PAH gene were amplified by PCR. PCR products were analyzed by bi-directional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).

Study of PIK3CA, BRAF, and KRAS mutations in breast carcinomas among Chinese women in Qinghai

Y. L. Wang, Dai, X., Li, Y. D., Cheng, R. X., Deng, B., Geng, X. X., and Zhang, H. J., Study of PIK3CA, BRAF, and KRAS mutations in breast carcinomas among Chinese women in Qinghai, vol. 14, pp. 14840-14846, 2015.

Phosphatidylinositol-3-OH kinase and RAS-activated signaling pathways play an important role in tumor formation. Abnormalities in relevant genes play essential roles in the occurrence and development of many human cancers. Studies of breast cancer have mainly focused on the women in western countries, but few studies have examined the frequency of mutations in PIK3CA, BRAF, and KRAS in Chinese breast cancer patients.

Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population

L. Meng, Gu, Y., Du, X. F., Shao, M. H., Zhang, L. L., Zhang, G. L., and Wang, X. L., Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population, vol. 14, pp. 19349-19359, 2015.

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the Chinese Biological Medicine Database and PubMed. HHD diagnoses were made based on clinical features and histopathological findings.

Pages

Subscribe to Mutation