Research Article

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Gene; Mutation; TSC1; Tuberous sclerosis complex

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 subependymal nodules along the lateral walls of the ... more

G.X. Wang; D.W. Wang; J.S. Zhao; S.F. Wang; R.P. Sun
11/22/2013
Biomarker; Mutation; Myelodysplastic syndromes; Refractory cytopenias with multilineage dysplasia; TET2

Myelodysplastic syndrome diagnosis of karyotypically normal patients may be elusive because it relies exclusively on morphological and clinical data. In routine practice, finding of an acquired mutation or a cytogenetic abnormality provides irrefutable evidence of the clonal nature of that disease. Recurrent deletions and somatic mutations in TET2, a gene involved in epigenetic ... more

D.F. Coutinho; C. Diniz; R.L.D. Filgueiras; R.L.R. Baptista; J.P. Ayres-Silva; B.C.R. Monte-Mór; M.H. Bonamino; I.R. Zalcberg
05/18/2012
Charcot-Marie-Tooth; Gender; Mitofusin 2; Mutation

Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in which the phenotype of affected individuals varied, and the ... more

Y.W. Wang; W.T. Han; M. Jiang; C.X. Lu; X.F. Li; X. Zhang; J.X. Li
12/29/2015
ATP2C1; Hailey-Hailey disease; Mutation

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 ... more

L. Meng; Y. Gu; X.F. Du; M.H. Shao; L.L. Zhang; G.L. Zhang; X.L. Wang
12/29/2015
12:i:-; 5; Flagellar phase variation; fljBA operon; Mutation; Salmonella enterica; Serovar 4; λ-red

Salmonella enterica subsp enterica serovar 4,5,12:i:- has been responsible for many recent Salmonella outbreaks worldwide. Several studies indicate that this serovar originated from S. enterica subsp enterica serovar Typhimurium, by the loss of the flagellar phase II gene (fljB) and adjacent sequences. However, at least two different ... more

M.P.O. Tomiyama; C.H. Werle; G.P. Milanez; D.B. Nóbrega; J.P. Pereira; A.P. Calarga; F. Flores; M. Brocchi
11/23/2015
BRAF; Breast cancer; KRAS; Mutation; PIK3CA

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 ... more

Y.L. Wang; X. Dai; Y.D. Li; R.X. Cheng; B. Deng; X.X. Geng; H.J. Zhang
11/23/2015
ATL1; Hereditary spastic paraplegia; Mutation; SPAST; X-linked dominant

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 ... more

N. Zhao; Y. Sui; X.F. Li; W. Liu; Y.P. Lu; W.H. Feng; C. Ma; Y.W. Wang; H.X. Bao; F. Huang; H. Wang; D.X. Yi; W.T. Han; M. Jiang
11/19/2015
Mutation; Phenylalanine hydroxylase gene; Phenylketonuria; Prenatal diagnosis

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 ... more

N. Liu; X.D. Kong; D.H. Zhao; Q.H. Wu; X.L. Li; H.F. Guo; L.X. Cui; M. Jiang; H.R. Shi
03/11/2016
male; Mutation; Polymerase chain reaction; Steroid-resistant nephrotic syndrome; WT1

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 ... more

Y. Yang; F. Zhao; X. Tu; Z. Yu; Y. Yang; F. Zhao; X. Tu; Z. Yu
11/03/2016
Keratoconus; Mutation; Next-generation sequencing; VSX1

The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We ... more

H. Bardak; M. Gunay; E. Yildiz; Y. Bardak; B. Gunay; H. Ozbas; O. Bagci

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