Beijing Aviation General Hospital

Beijing, China

Beijing Aviation General Hospital

Beijing, China
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Jia Z.,Beijing Aviation General Hospital | Jia Z.,Chinese Academy of Sciences | Mao F.,Chinese Academy of Sciences | Mao F.,University of Chinese Academy of Sciences | And 5 more authors.
International Journal of Clinical and Experimental Pathology | Year: 2017

Background: As a structural defect due to abnormal heart formation, congenital heart disease (CHD) is the most common birth defect. Most of the known causes of congenital heart disease are sporadic genetic changes in results of either focal mutations or deletion. The purpose of this study was to investigate de novo mutation of CHD. Methods: Whole exome sequencing analysis was performed on DNA of venous blood of his parents and leg muscles from the child with CHD to scan for de novo mutations. Sanger sequencing was performed to verify these candidate mutations in the CHD tissue, parental blood, Clinical and fetal echocardiography examinations were performed on the patient diagnosed with CHD. Results: The sequencing methods found a de novo missense mutation c.A25G (p.S9G) in exon 2 of gene TRPM4, which plays a critical role in mediating transport of monovalent cations across membranes. The de novo missense mutation led to the conversion of serine acid to glycine acid (p.S9G), resulting in a deleterious mutation in the TRPM4 protein. Multiple-sequence alignments showed that codon 9, where the mutation (c.A25G) occurred, was located within a phylogenetically conserved region. Conclusions: We report a de novo missense mutation c.A25G (p.S9G) in TRPM4 for Chinese patient with CHD. Our findings broaden the genotypic spectrum of CHD and provide new molecular insight into future clinical genetic diagnosis of CHD.


Sun J.,Beijing Aviation General Hospital | Feng S.-H.,Beijing Aviation General Hospital
International Journal of Ophthalmology | Year: 2011

AIM: To compare the change of intraocular pressure (IOP) and correlative factors in exfoliation syndrome combined with cataract and senile cataract 2 years after phacoemulsification. METHODS: A total of 49 patients 54 eyes with exfoliation syndrome combined with cataract underwent phacoemulsification and intraocular lens (IOL) implantation. Based on IOP, they were divided into exfoliation syndrome combined with cataract (XFS) sub-group (29 cases 31 eyes) and exfoliation syndrome combined with cataract and glaucoma (XFG) sub-group (20 cases 23 eyes). 134 senile cataract patients 152 eyes received phacoemulsification and IOL implantation and were selected as a control at the same period; according to IOP, they were divided into cataract group (86 cases 93 eyes) and cataract combined with open angle glaucoma sub-group (48 cases 59 eyes). The exfoliation syndrome combined with cataract group and control group underwent surgery after IOP was normal by medication and the change of IOP was compared within 2 years after phacoemulsification. RESULTS: preoperative IOP of exfoliation syndrome subgroup was higher than that of the control group (21.85±2.23mmHg vs 18.62±3.12mmHg, P=0.002). Two years after phacoemulsification, IOP lowered in both groups (17.60±3.23mmHg vs 15.08±3.18mmHg, P=0.0037). Statistical analysis showed that it was related with surgical perfusion. IOP of XFG group had significantly decreased. CONCLUSION: The exfoliation syndrome combined with cataract group have significantly lower IOP than the control group 2 years after phacoemulsification.


Zhang L.,Chinese PLA General Hospital | Jia Z.,Beijing Aviation General Hospital | Mao F.,Chinese Academy of Sciences | Mao F.,University of Chinese Academy of Sciences | And 3 more authors.
Oncology Reports | Year: 2016

Clear cell sarcoma (CCS) is a rare,low-grade carcinoma commonly located in the distal extremities of young adults involving tendons and aponeuroses. CCS is characterized by its poor prognosis due to late diagnosis,multiple local recurrence,propensity to late metastases,and a high rate of tumor-related mortality. The genetic cause for CCS is thought to be EWSR1 gene translocation. However,CCS lacking a translocation may have other,as yet uncharacterized,genetic mutations that can cause the same pathological effect. A combination of whole-exome sequencing and Sanger sequencing of cancer tissue and venous blood from a patient diagnosed with CCS of the salivary gland revealed a somatic missense mutation,c.1061C>T (p.P354L),in exon 9 of the Nibrin gene (NBN). This somatic missense mutation led to the conversion of proline to leucine (p.P354L),resulting in deleterious effects for the NBN protein. Multiple-sequence alignments showed that codon 354,where the mutation (c.1061C>T) occurs,is located within a phylogenetically conserved region. In conclusion,we here report a somatic missense mutation c.1061C>T (p.P354L) in the NBN gene in a patient with CCS lacking an EWSR1-ATF1 fusion. Our findings broaden the genotypic spectrum of CCS and provide new molecular insight that should prove useful in the future clinical genetic diagnosis of CCS.


PubMed | Chinese Academy of Sciences, Chinese PLA General Hospital and Beijing Aviation General Hospital
Type: Journal Article | Journal: Oncology reports | Year: 2016

Clear cell sarcoma (CCS) is a rare, low-grade carcinoma commonly located in the distal extremities of young adults involving tendons and aponeuroses. CCS is characterized by its poor prognosis due to late diagnosis, multiple local recurrence, propensity to late metastases, and a high rate of tumor-related mortality. The genetic cause for CCS is thought to be EWSR1 gene translocation. However, CCS lacking a translocation may have other, as yet uncharacterized, genetic mutations that can cause the same pathological effect. A combination of wholeexome sequencing and Sanger sequencing of cancer tissue and venous blood from a patient diagnosed with CCS of the salivary gland revealed a somatic missense mutation, c.1061C>T (p.P354L), in exon9 of the Nibrin gene (NBN). This somatic missense mutation led to the conversion of proline to leucine (p.P354L), resulting in deleterious effects for the NBN protein. Multiple-sequence alignments showed that codon354, where the mutation (c.1061C>T) occurs, is located within a phylogenetically conserved region. In conclusion, we here report a somatic missense mutation c.1061C>T (p.P354L) in the NBN gene in a patient with CCS lacking an EWSR1-ATF1 fusion. Our findings broaden the genotypic spectrum of CCS and provide new molecular insight that should prove useful in the future clinical genetic diagnosis of CCS.

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