Mutation analysis

Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype

K. Wang, Li, Y. T., Hou, M., Wang, K., Li, Y. T., and Hou, M., “Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype”, vol. 15, p. -, 2016.

Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for the identification of mutations in UBE3A in 10% of patients with AS.

NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1

S. Y. Su, Zhou, X., Pang, X. M., Chen, C. Y., Li, S. H., Liu, J. L., Su, S. Y., Zhou, X., Pang, X. M., Chen, C. Y., Li, S. H., Liu, J. L., Su, S. Y., Zhou, X., Pang, X. M., Chen, C. Y., Li, S. H., and Liu, J. L., “NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1”, vol. 15, p. -, 2016.

Neurofibromatosis type 1, also known as NF1 or von Recklinghausen’s disease, is a common neurocutaneous syndrome that presents with multiple café-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. The mutations of the gene NF1, encoding the protein neurofibromin, have been identified as the cause of this disease. Here, we report a clinical and molecular study of a Chinese patient with multiple café-au-lait skin freckles, dermatofibroma, central and peripheral nervous system tumors, and bone abnormalities attributed to NF1.

Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration

Y. N. Zong and X. Kong, “Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration”, vol. 14, pp. 18764-18770, 2015.

We investigated the genetic mutations involved in Wilson’s disease to improve prenatal genetic diagnosis and presymptomatic diagnosis. The polymerase chain reaction (PCR) was used to amplify the exons and exon-intron boundaries of the ATP7B gene in 35 Wilson’s disease pedigrees. The PCR products were further analyzed by Sanger sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of parents of the probands were identified. The overall mutation detection frequency was 92.9%.

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