Mutation
A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome
Authors: Y. Yin1,X.-H. Liu2,X.-H. Li,N. Fan,D.-F. Lei,Y. Wang,S.-P. Cai,X.-M. Zhou,X.-M. Chen and X.-Y. Liu
The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was perf.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.27.27
- DOI:
- http://dx.doi.org/10.4238/2015.April.27.27
New compound heterozygous mutations of p. Thr101Ilefs*2 and p. Thr306Ale in a child from a Chinese family with 17�±-hydroxylase/17, 20-lyase deficiency
Authors: H. Xiao, H. Zhang, T. Li, D. Wu, L.T. Qin, T. Wang, B. Zhang and S.X. Liao
We determined whether a child with 17a-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17a-hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chain reaction analysis and electrophoretic techniques were use.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.10.12
- DOI:
- 10.4238/2015.August.10.12
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer
Authors: Y. Dodurga, C. Tataroglu, Z. Kesen and N.L. Satiroglu-Tufan
Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autoso.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr923
- DOI:
- 10.4238/vol10-1gmr923
A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex
Authors: G.-X. Wang, D.-W. Wang, J.-S. Zhao, S.-F. Wang and R.-P. Sun
Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed sube.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr977
- DOI:
- 10.4238/vol10-1gmr977
Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer
Authors: Y. Yu, F. Lv, H. Lin, G. Qian, Y.S. Jiang, L.X. Pang, Y.P. Wang, X.F. Wang, Y.M. Kang, C.B. Li, Q. Liu, J.Z. Xu and W. You
Mitochondrial DNA mutations have been found to play important roles in carcinogenesis. The most common G10398A mutation, a non-conservative amino acid substitution from Thr to Ala, seems to be involved in the tumorigenesis of breast cancer. Results from studies concerning this mutation remain inconclusive. In the current study, we first took clinical and .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.21.12
- DOI:
- 10.4238/2015.December.21.12
Applicability of genetic polymorphism analysis for the diagnosis of Angelman syndrome and the correlation between language difficulties and disease phenotype
Authors: K. Wang, Y.T. Li and M. Hou
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 .. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027945
- DOI:
- 10.4238/gmr.15027945
Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta
Authors: Z. Yang, Z.F. Ke, C. Zeng, Z. Wang, H.J. Shi and L.T. Wang
Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been report.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr984
- DOI:
- 10.4238/vol10-1gmr984
Mitochondrial transfer RNA mutations and hypertension
Authors: S.L. Yin, C. Lan, H. Pei, and Z.Q. Zhu
Mutations in mitochondrial DNA have been found to be associated with hypertension. Of these, mitochondrial transfer RNA (mt-tRNA) is a hot spot for these pathogenic mutations. It is generally believed that these mutations may result in the failure of mt-tRNA metabolism, thereby worsening mitochondrial dysfunction and resulting in hypertension. mt-tRNA is .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.21.42
- DOI:
- 10.4238/2015.December.21.42
One missense mutation in exon 2 of the PAX5 gene in Iran
Authors: S. Yazdanparast, S.R. Khatami, H. Galehdari and K. Jaseb
The PAX5 gene, which encodes the B-cell specific activator protein, is one of the most important factors in determination of B-cell development. This gene is the main target of somatic mutations in acute B lymphoblastic leukemia (B-ALL). For example, point mutations, deletions, as well as other gene rearrangements may lead to several forms of B-cell malig.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.22.1
- DOI:
- 10.4238/2015.December.22.1
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment
Authors: J.S. Carrasco-Miranda, R. Garcia-Alvarez, R.R. Sotelo-Mundo, O. Valenzuela, M.A. Islas-Osuna and N. Sotelo-Cruz
Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecess.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.June.24.1
- DOI:
- 10.4238/2013.June.24.1