Gene mutation

A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract

X. D. Kong, Liu, N., Shi, H. R., Dong, J. M., Zhao, Z. H., Liu, J., Li-Ling, J., and Yang, Y. X., “A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract”, vol. 14, pp. 426-432, 2015.

Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to rule out any concomitant disorders. Blood samples were collected and genomic DNA was extracted. Potential mutations in the candidate gene alpha A crystallin (CRYAA) were screened.

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation

Q. L. Bai, Liu, N., Kong, X. D., Xu, X. J., and Zhao, Z. H., “Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation”, vol. 14, pp. 6164-6172, 2015.

We investigated the feasibility of interleukin-2 recep­tor gamma (IL2Rγ) gene based on gene mutation analysis and pre­natal diagnosis of X-linked severe combined immunodeficiency (X-SCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rγ gene sequences of the 2 families were analyzed using bi-directional direct sequencing by polymerase chain reaction. DNA sequence changes in the IL2Rγ gene exon region and shear zone were also analyzed. We also sequenced the IL2Rγ gene in 100 healthy individuals.

Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China

L. Chen, Ding, X. P., Wei, X., and Li, L. X., “Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China”, vol. 13, pp. 1518-1526, 2014.

We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutations detected were then aligned with a random sample of 100 normal sequences and the NCBI sequence database in order to confirm any new mutations.

MEF2A gene mutations and susceptibility to coronary artery disease in the Chinese population

J. Li, Chen, H. - X., Yang, J. - G., Li, W., Du, R., and Tian, L., “MEF2A gene mutations and susceptibility to coronary artery disease in the Chinese population”, vol. 13, pp. 8396-8402, 2014.

We investigated mutations and polymorphisms of the coronary artery disease (CAD)-related myocyte enhancer factor 2A (MEF2A) gene in a Chinese population. Polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing were used to detect exon 11 of the MEF2A gene in 210 Hubei patients with CAD and 190 healthy controls.

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia

L. H. Cao, Wang, L. B., Wang, S. S., Ma, H. W., Ji, C. Y., and Luo, Y., “Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia”, vol. 10, pp. 955-963, 2011.

Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked for mutations in the COMP gene in three sporadic Chinese pseudoachondroplasia patients and identified two novel mutations, c.1189G>T (p.D397Y) and c.1220G>A (p.C407Y), and one recurrent mutation, c.1318G>C (p.G440R), in the calcium binding type III repeats of COMP.

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