Mental retardation

Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China

M. J. Zhang, Xing, L. X., Cui, M., Yang, X., Shi, J. G., Li, J., Zhang, K. J., Zheng, Z. J., Zhang, F. C., Li, J. L., and Gao, X. C., Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China, vol. 14, pp. 5022-5030, 2015.

TUSC3 interacts with the protein phosphatase 1 and magnesium ion transport system, which plays an important role in learning and memory. Abnormal conditions of learning and memory are common clinical characteristics of mental retardation (MR). However, the association of TUSC3 genetic polymorphisms with MR remains unknown. A total of 456 DNA samples including 174 nuclear families containing MR were collected in the Qinba mountain area of China. The genotypes of eight tag single nucleotide polymorphisms of TUSC3 were evaluated with traditional genetic methods.

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China

C. Huang, Yang, Y. - F., Zhang, H., Xie, L., Chen, J. - L., Wang, J., Tan, Z. - P., and Luo, H., Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China, vol. 11, pp. 2321-2327, 2012.

Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral problems (self hugging, sleeping disturbance).

Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

Y. Soysal, Vermeesch, J., Davani, N. A., Şensoy, N., Hekimler, K., and Imirzalıoğlu, N., Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech, vol. 10. pp. 2148-2154, 2011.

We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications.

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA

D. M. Christofolini, Lipay, M. V. N., Ramos, M. A. P., Brunoni, D., and Melaragno, M. I., Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA, vol. 5, pp. 448-453, 2006.

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR.

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