Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report.

Abstract:

:Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder. Phospholipase A2 group VI (PLA2G6) gene mutations have been identified in the majority of individuals with INAD. The present case report is on a Chinese female pediatric patient (age, 18 months) diagnosed with INAD with deafness. To date, only four cases of INAD with hearing loss have been reported, PLA2G6-association has not been investigated. Next-generation DNA sequencing technology was used to identify disease-associated genes and Sanger sequencing was applied to verify the mutation in the patient's pedigree. Two mutations were identified in the PLA2G6 gene: c.1T>C (E2) and c.497 (E4) to c.496 (E4): Insert C. The distribution frequency of those mutations in the Single Nucleotide Polymorphism, HapMap, 1000 Genomes and Exome Aggregation Consortium databases was 0. However, cases of INAD appear to be underreported, particularly those from China. The identification of two mutations in the present study suggests unique PLA2G6 mutations in Chinese patients, and greatly expands on the spectrum of known mutations in INAD patients.

journal_name

Exp Ther Med

authors

Wang B,Wu,Tang J

doi

10.3892/etm.2018.6347

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

1290-1294

issue

2

eissn

1792-0981

issn

1792-1015

pii

ETM-0-0-6347

journal_volume

16

pub_type

杂志文章
  • FABP4 alleviates endoplasmic reticulum stress-mediated ischemia-reperfusion injury in PC12 cells via regulation of PPARγ.

    abstract::Ischemic stroke is a life-threatening complication with a high rate of morbidity. Circulating fatty acid binding protein 4 (FABP4) has been reported to be associated with the outcome of acute ischemic stroke. The present study aimed to illustrate the function of FABP4 in ischemic stroke. PC12 cells exposed to oxygen g...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2021.9612

    authors: Yang XL,Mi JH,Dong Q

    更新日期:2021-03-01 00:00:00

  • Effects of progesterone on hippocampal ultrastructure and expression of inflammatory mediators in neonatal rats with hypoxic-ischemic brain injury.

    abstract::Progesterone (PROG) has been shown to exhibit a protective function against hypoxic-ischemic brain damage. The aim of the present study was to study the effects of PROG in a neonatal rat model of hypoxic-ischemic brain injury. A total of 30 Wistar rats, aged 7 days, were randomly divided into three groups: Sham, model...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2014.1589

    authors: Li X,Zhang J,Zhu X,Hou R,Li X,Dong X,Wang X,Lu C

    更新日期:2014-05-01 00:00:00

  • Co-culture with endometrial stromal cells enhances the differentiation of human embryonic stem cells into endometrium-like cells.

    abstract::In vitro differentiation of human embryonic stem cells (hESCs) into endometrium-like cells may provide a useful tool for clinical treatment. The aim of the present study was to investigate the differentiation potential of hESCs into endometrium-like cells using three methods, which included induction by feeder cells, ...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2015.2490

    authors: Yu W,Niu W,Wang S,Chen X,Sun BO,Wang F,Sun Y

    更新日期:2015-07-01 00:00:00

  • Comparative analysis of 3D time-resolved contrast-enhanced magnetic resonance angiography, color Doppler ultrasound and digital subtraction angiography in symptomatic carotid stenosis.

    abstract::The present study aimed to compare the diagnostic value of contrast-enhanced magnetic resonance angiography (CE MRA) with 3D time-resolved imaging of contrast kinetics, color Doppler ultrasound (CDUS) and digital subtraction angiography (DSA) in extracranial carotid stenosis (CS). A total of 54 patients with symptomat...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.5548

    authors: Cui H,Yan R,Zhai Z,Ren J,Li Z,Li Q,Wang S

    更新日期:2018-02-01 00:00:00

  • E3 ubiquitin ligase isolated by differential display regulates cervical cancer growth in vitro and in vivo via microRNA-143.

    abstract::Cervical cancer is one of the most common gynecological cancers worldwide. Aberrant expression of E3 ubiquitin ligase isolated by differential display (EDD) has been detected in various types of tumor and has been demonstrated to have an important role in carcinogenesis, tumor growth and drug resistance. However, the ...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2016.3429

    authors: Li J,Wang X,Zhang Y,Zhang Y

    更新日期:2016-08-01 00:00:00

  • Efficacy and tolerability of oxycodone in moderate-severe cancer-related pain: A meta-analysis of randomized controlled trials.

    abstract::In order to evaluate the efficacy and tolerability of oxycodone in moderate-severe cancer-related pain, we conducted a systematic review of randomized controlled trials (RCTs). Publications addressing the efficacy and tolerability of oxycodone in moderate-severe cancer-related pain were selected from the Cochrane libr...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2012.571

    authors: Wang YM,Liu ZW,Liu JL,Zhang L

    更新日期:2012-08-01 00:00:00

  • Effects of hUCB-MSCs on recovery of neurological function and TERT expression in brain tissue of rats with cerebral ischemia-reperfusion injury.

    abstract::The aim of this study was to investigate and analyze the effects of human umbilical cord blood mesenchymal stem cells (hUCB-MSCs) on the recovery of neurological function and telomerase reverse transcriptase (TERT) expression in brain tissue of rats with cerebral ischemia-reperfusion injury. A total of 100 healthy adu...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.5274

    authors: Huang X,Zhang S,Li F,Zhou Y,Wang X,Fu G,Ma X

    更新日期:2017-12-01 00:00:00

  • Evaluation of cervical cancer detection with acoustic radiation force impulse ultrasound imaging.

    abstract::The aim of this study was to evaluate the application of acoustic radiation force impulse (ARFI) ultrasound imaging and its potential value in the characterization of cervical cancer. ARFI ultrasound imaging of the uterine cervix was performed in 58 patients with cervical cancer prior to surgery. The diagnosis of cerv...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2013.1057

    authors: Su Y,DU L,Wu Y,Zhang J,Zhang X,Jia X,Cai Y,Li Y,Zhao J,Liu Q

    更新日期:2013-06-01 00:00:00

  • Distribution characteristics of Staphylococcus spp. in different phases of periprosthetic joint infection: A review.

    abstract::Periprosthetic joint infection (PJI) is a devastating condition and Staphylococcus spp. are the predominant pathogens responsible, particularly coagulase-negative staphylococci (CoNS) and Staphylococcus aureus. The aim of the present systematic review was to evaluate the distribution characteristics of specific Staphy...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.4300

    authors: Guo G,Wang J,You Y,Tan J,Shen H

    更新日期:2017-06-01 00:00:00

  • Aripiprazole exerts a neuroprotective effect in mouse focal cerebral ischemia.

    abstract::Previous studies have demonstrated that aripiprazole (APZ), a third-generation atypical antipsychotic drug, exhibits anti-depressant and neuroprotective effects by promoting dopaminergic neuronal cell recovery in stroke. To investigate the neuroprotective effects of APZ, behavioral and histopathological experiments we...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.5443

    authors: Gil CH,Kim YR,Lee HJ,Jung DH,Shin HK,Choi BT

    更新日期:2018-01-01 00:00:00

  • Protective effects of scopolamine and penehyclidine hydrochloride on acute cerebral ischemia-reperfusion injury after cardiopulmonary resuscitation and effects on cytokines.

    abstract::The objective of this study was to investigate the protective effects of scopolamine and penehyclidine hydrochloride on acute cerebral ischemia-reperfusion injury after cardiopulmonary resuscitation, and the effect on cytokine levels. Eighty patients with cardiac arrest admitted to our hospital from June 2011 to Decem...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.5646

    authors: Wang D,Jiang Q,Du X

    更新日期:2018-02-01 00:00:00

  • Reduced pim-1 expression increases chemotherapeutic drug sensitivity in human androgen-independent prostate cancer cells by inducing apoptosis.

    abstract::Chemotherapeutic drug resistance is an obstacle for the successful therapy of prostate cancer. The aim of the present study was to identify the effects of proto-oncogene serine/threonine-protein kinase pim-1 (pim-1) in the proliferation of chemotherapeutic drug-resistant prostate cancer cells. Androgen-independent hum...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2019.7862

    authors: Zhang X,Sun Y,Wang P,Yang C,Li S

    更新日期:2019-10-01 00:00:00

  • Merosin-deficient congenital muscular dystrophy type 1A: A case report.

    abstract::The aim of this study was to characterize the clinical and genetic features of a 4-year-old female with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2013.1271

    authors: He Z,Luo X,Liang L,Li P,Li D,Zhe M

    更新日期:2013-11-01 00:00:00

  • Dynamic expression of Epac and Rap1 in mouse oocytes and preimplantation embryos.

    abstract::Cyclic adenosine monophosphate (cAMP) is an important secondary messenger that has long been recognized to control the initiation of meiosis through the activation of protein kinase A (PKA) in mammalian oocytes. However, PKA is not the only target for cAMP. Recent studies on cAMP-dependent and PKA-independent pathways...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2018.6253

    authors: Wang JC,Geng Y,Han Y,Luo HN,Zhang YS

    更新日期:2018-08-01 00:00:00

  • Nkx2.5 insufficiency leads to atrial electrical remodeling through Wnt signaling in HL-1 cells.

    abstract::Homeobox protein Nxk-2.5 (Nkx2.5) is a homeobox transcription factor that promotes chamber-like myocardial gene expression. Data from a previous genome-wide association study suggested that Nkx2.5 may be associated with the genetic variation that underlies atrial fibrillation (AF). Nkx2.5 loss of function has been dem...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2019.8134

    authors: Chen J,Xu S,Li W,Wu L,Wang L,Li Y,Zhou W

    更新日期:2019-12-01 00:00:00

  • High dosage of agmatine alleviates pentylenetetrazole-induced chronic seizures in rats possibly by exerting an anticonvulsive effect.

    abstract::The aim of the present study was to investigate the mechanism underlying the effects of different doses of agmatine in rats with chronic epilepsy. To generate chronic epilepsy models, rats pretreated with different doses of agmatine (20, 40 and 80 mg/kg) were intraperitoneally injected with pentylenetetrazole (35 mg/k...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2014.1711

    authors: Xu H,Ou F,Wang P,Naren M,Tu D,Zheng R

    更新日期:2014-07-01 00:00:00

  • Poly(lactic-co-glycolic acid)-bioactive glass composites as nanoporous scaffolds for bone tissue engineering: In vitro and in vivo studies.

    abstract::The aim of the present study was to investigate the feasibility of using composite scaffolds of poly(lactic-co-glycolic acid) (PLGA) and bioactive glass (BG) to repair bone defects. PLGA/BG composite scaffolds were prepared by thermally-induced phase separation. Scanning electron microscopy (SEM) was used to study the...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2019.8121

    authors: Yang L,Liu S,Fang W,Chen J,Chen Y

    更新日期:2019-12-01 00:00:00

  • Fistular onion stalk extract exhibits anti-atherosclerotic effects in rats.

    abstract::Fistular onion stalk is used as a traditional herbal medicine, and its extract exhibits certain beneficial effects on cardiovascular disease. In this study, the effects of fistular onion stalk extract on the pathological features, circulating inflammatory cytokines, local renin-angiotensin-aldosterone system (RAAS) an...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2014.1790

    authors: He B,Hao J,Sheng W,Xiang Y,Zhang J,Zhu H,Tian J,Zhu X,Feng Y,Xia H

    更新日期:2014-09-01 00:00:00

  • Clinical significance of leukocyte-associated immunoglobulin-like receptor-1 expression in human cervical cancer.

    abstract::Leukocyte-associated immunoglobulin-like receptor-1 (LAIR-1) is broadly expressed on the majority of immune cells; however, the biological role of LAIR in solid tumors has yet to be elucidated. In the present study, using immunohistochemical staining analysis, the expression of LAIR-1 in human cervical cancer (HCC) an...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2016.3842

    authors: Wang Y,Zhang X,Miao F,Cao Y,Xue J,Cao Q,Zhang X

    更新日期:2016-12-01 00:00:00

  • Antiosteoporotic effects of Polycan in combination with calcium lactate-gluconate in ovariectomized rats.

    abstract::The aim of the present study was to investigate the optimum composition of Polycan (β-glucan complex) and calcium lactate-gluconate (CaLG) that exhibited the most beneficial effects in ovariectomy (OVX)-induced osteoporotic rats. Polycan and CaLG single formulas (100 mg/kg each), and three doses (50, 100 and 200 mg/kg...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2014.1793

    authors: Choi JS,Kim JW,Kim KY,Cho HR,Choi IS,Ku SK

    更新日期:2014-09-01 00:00:00

  • Surgical management of Gorham-Stout syndrome involving the cervical spine with bilateral pleural effusion: A case report and literature review.

    abstract::Gorham-Stout syndrome (GSS) is a rare disease characterized by spontaneous and progressive osteolysis caused by benign proliferation of lymphatic vessels or capillaries. It most commonly occurs in children or young individuals without any inherited predisposition. GSS most commonly affects the shoulder girdle, pelvis,...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2020.8627

    authors: Chang KJ,Yang MH,Li B,Huang H

    更新日期:2020-06-01 00:00:00

  • Effect of eicosapentaenoic acid and pitavastatin on electrophysiology and anticoagulant gene expression in mice with rapid atrial pacing.

    abstract::Atrial remodeling is considered to be any persistent change in atrial structure or function, and is responsible for the development and perpetuation of atrial fibrillation (AF). Oxidative stress and intracellular pH regulation may also be linked to AF; however it remains unclear whether eicosapentaenoic acid (EPA) or ...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.4741

    authors: Tong M,Wang J,Ji Y,Chen X,Wang J,Wang S,Ruan L,Cui H,Zhou Y,Zhang Q,Watanabe E

    更新日期:2017-09-01 00:00:00

  • Expression of a novel splice variant of FRMD7 in developing human fetal brains that is upregulated upon the differentiation of NT2 cells.

    abstract::FRMD7 mutations are associated with X-linked idiopathic congenital nystagmus (ICN); however, the underlying mechanisms whereby mutations of FRMD7 lead to ICN remain unclear. In a previous study, the first FRMD7 splice variant (FRMD7-S) was cloned and identified, and FRMD7-S was hypothesized to play a significant role ...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2014.1916

    authors: Li Y,Pu J,Zhang B

    更新日期:2014-10-01 00:00:00

  • Comparison of the purity and vitality of natural killer cells with different isolation kits.

    abstract::Natural killer (NK) cells are innate lymphocytes that aid in the protection of the host from infectious diseases and cancer. In vitro studies of NK cells have provided a foundation for developing clinical adoptive NK-cell transferred immunotherapy against human tumors. To elucidate the functions and mechanisms of NK c...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.4189

    authors: Wang G,Yu G,Wang D,Guo S,Shan F

    更新日期:2017-05-01 00:00:00

  • Effect of stromal cell-derived factor-1 on myocardial apoptosis and cardiac function recovery in rats with acute myocardial infarction.

    abstract::The aim of the study was to investigate the effect of stromal cell-derived factor-1 (SDF-1) on myocardial apoptosis and cardiac function recovery in rats with acute myocardial infarction (AMI) and the mechanism of the Toll-like receptor (TLR)-4/nuclear factor-κB (NF-κB) signaling pathway. A total of 64 healthy male F3...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2016.3770

    authors: Liu Y,Gao S,Wang Z,Yang Y,Huo H,Tian X

    更新日期:2016-11-01 00:00:00

  • Evaluating tensile damage of brain tissue in intracerebral hemorrhage based on strain energy.

    abstract::Intracerebral hemorrhage (ICH) may lead to physical and pathological damage and has been a focus of research for decades. Evaluating tensile damage caused by deformation in ICH is an important component of damage assessment for correct diagnosis and treatment. Traditional research on ICH paid little attention to quant...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2018.6757

    authors: Ren P,Wang BC,Wang YZ,Hao SL,Guo TW,Li XF

    更新日期:2018-12-01 00:00:00

  • Thalidomide and its analogues: A review of the potential for immunomodulation of fibrosis diseases and opthalmopathy.

    abstract::The US Food and Drug Administration approved thalidomide and its analogues for the treatment of erythema nodosum leprosum, in spite of the notoriety of reports of severe birth defects in the middle of the last century. As immunomodulatory drugs, thalidomide and its analogues have been used to effectively treat various...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.5209

    authors: Liu T,Guo F,Zhu X,He X,Xie L

    更新日期:2017-12-01 00:00:00

  • Vascular regeneration by pinpoint delivery of growth factors using a microcatheter reservoir system in a rabbit hind-limb ischemia model.

    abstract::The purpose of this study was to compare the results of delivering low doses of growth factor iteratively (20 μg x5) via a reservoir system with results obtained following a single administration of 100 μg of growth factor. The delivery systems using gelatin microspheres (GMS) facilitate the controlled release of drug...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2012.574

    authors: Nitta N,Nitta-Seko A,Sonoda A,Watanabe S,Tsuchiya K,Murata K,Tabata Y

    更新日期:2012-08-01 00:00:00

  • Long-term survival rates of patients with stage IIIB and IV non-small cell lung cancer treated with cisplatin plus vinorelbine or gemcitabine.

    abstract::Limited data exist concerning the long-term (≥5 year) survival rates of patients with stage IIIB and IV non-small cell lung carcinoma (NSCLC) receiving chemotherapy. We aimed to determine the long-term results of cisplatin plus third-generation (vinorelbine or gemcitabine) cytotoxic chemotherapy in patients with local...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2012.714

    authors: Ozkaya S,Findik S,Dirican A,Atici AG

    更新日期:2012-12-01 00:00:00

  • Analysis of the clinical value of fractional flow reserve for prognosis evaluation of patients of percutaneous coronary intervention.

    abstract::We investigated the clinical value of fractional flow reserve (FFR) for the prognostic evaluation of patients with percutaneous coronary intervention. We enrolled 120 patients who were admitted to the hospital to undergo percutaneous coronary intervention for acute coronary syndromes between May 2014 and June 2015. Th...

    journal_title:Experimental and therapeutic medicine

    pub_type: 杂志文章

    doi:10.3892/etm.2017.5433

    authors: Zhao Q,Ji Z,Li X,Di Y,An H,Wei B,Yang L,Chen W

    更新日期:2018-01-01 00:00:00