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Transcatheter aortic valve implantation (TAVI) for patients with rheumatic aortic stenosis (AS) is not well-known. We herein report a case of TAVI in rheumatic AS without significant calcification and prior mitral valve replacement. An 80-year-old woman underwent TAVI for severe AS. Preoperative computed tomography revealed tricuspid aortic valve leaflets with commissural fusion, minimal calcification, and a minimal distance between the aortic annulus and mechanical mitral valve. TAVI was performed through a transfemoral approach under general anesthesia. After predilatation of the aortic valve with a 20-mm balloon, a 23-mm SAPIEN 3 valve was successfully deployed via slow inflation. Valve embolization did not occur, and the valve did not interfere with the prosthetic mitral leaflets. This report shows that TAVI can be safe, feasible, and effective in patients with rheumatic AS without significant calcification and prior mitral valve replacement.
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INTRODUCTION: Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. The diagnostic rate of this disease in some European nations is quite high, due to the presence of multiple prospective registries. On the other hand, few data-and in particular multicentre data-exist regarding this issue among Japanese subjects. Therefore, this study intends to assemble a multicentre registry that aims to comprehensively assess cardiovascular risk among Japanese FH patients while taking into account their genetic backgrounds. METHODS AND ANALYSIS: The Hokuriku-plus FH registry is a prospective, observational, multicentre cohort study, enrolling consecutive FH patients who fulfil the clinical criteria of FH in Japan from 37 participating hospitals mostly in Hokuriku region of Japan from April 2020 to March 2024. A total of 1000 patients will be enrolled into the study, and we plan to follow-up participants over 5 years. We will collect clinical parameters, including lipids, physical findings, genetic backgrounds and clinical events covering atherosclerotic and other important events, such as malignancies. The primary endpoint of this study is new atherosclerotic cardiovascular disease (ASCVD) events. The secondary endpoints are as follows: LDL cholesterol, secondary ASCVD events and the occurrence of other diseases including hypertension, diabetes and malignancies. ETHICS AND DISSEMINATION: This study is being conducted in compliance with the Declaration of Helsinki, the Ethical Guidelines for Medical and Health Research Involving Human Subjects, and all other applicable laws and guidelines in Japan. This study protocol has been approved by the Institutional Review Board at Kanazawa University. We will disseminate the final results at international conferences and in a peer-reviewed journal. TRIAL REGISTRATION NUMBER: UMIN000038210.
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Hiperlipoproteinemia Tipo II , Estudos de Coortes , Humanos , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Japão/epidemiologia , Estudos Prospectivos , Sistema de RegistrosRESUMO
A 52-year-old man was admitted to our hospital because of acute anteroseptal myocardial infarction. After a bare metal stent (BMS) was implanted in the left anterior descending artery (LAD), aspirin, clopidogrel, statin, angiotensin II receptor blocker, and ß blocker were prescribed. 6 years later, however, the patient stopped taking all medication by himself. Further 2 years later, the patient was admitted to our hospital again with chest pain, and emergent coronary angiography showed the total occlusion of the LAD at the site where the previous stent was deployed. Optical coherent tomography (OCT) showed lipid rich neointima with thin cap, suggesting neoatherosclerosis at the proximal to the occlusive site. OCT also showed white thrombus formation around at the occlusive site. Intravascular ultrasound (IVUS) showed the ruptured cavity within the stent at the occlusive site. These findings suggest that the neoatherosclerosis had progressed and ruptured within BMS for 2 years. We would suggest continuation of not only an antiplatelet agent but other optimal medical therapy to prevent the substantial neoatherosclerotic burden and occurrence of late phase stent thrombosis even in BMS.
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In land plants, photosystem I (PSI) photoinhibition limits carbon fixation and causes growth defects. In addition, recovery from PSI photoinhibition takes much longer than PSII photoinhibition when the PSI core-complex is degraded by oxidative damage. Accordingly, PSI photoinhibition should be avoided in land plants, and land plants should have evolved mechanisms to prevent PSI photoinhibition. However, such protection mechanisms have not yet been identified, and it remains unclear whether all land plants suffer from PSI photoinhibition in the same way. In the present study, we focused on the susceptibility of PSI to photoinhibition and investigated whether mechanisms of preventing PSI photoinhibition varied among land plant species. To assess the susceptibility of PSI to photoinhibition, we used repetitive short-pulse (rSP) illumination, which specifically induces PSI photoinhibition. Subsequently, we found that land plants possess a wide variety of tolerance mechanisms against PSI photoinhibition. In particular, gymnosperms, ferns and mosses/liverworts exhibited higher tolerance to rSP illumination-induced PSI photoinhibition than angiosperms, and detailed analyses indicated that the tolerance of these groups could be partly attributed to flavodiiron proteins, which protected PSI from photoinhibition by oxidizing the PSI reaction center chlorophyll (P700) as an electron acceptor. Furthermore, we demonstrate, for the first time, that gymnosperms, ferns and mosses/liverworts possess a protection mechanism against photoinhibition of PSI that differs from that of angiosperms.
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Clorofila/metabolismo , Embriófitas/metabolismo , Processos Fotoquímicos , Complexo de Proteína do Fotossistema I/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Briófitas/efeitos dos fármacos , Briófitas/fisiologia , Cycadopsida/efeitos dos fármacos , Cycadopsida/fisiologia , Transporte de Elétrons/efeitos dos fármacos , Embriófitas/efeitos dos fármacos , Gleiquênias/efeitos dos fármacos , Gleiquênias/fisiologia , Helianthus/efeitos dos fármacos , Helianthus/fisiologia , Cinética , Luz , Oxirredução , Paraquat/farmacologia , Processos Fotoquímicos/efeitos dos fármacos , Fatores de Tempo , Zea mays/efeitos dos fármacos , Zea mays/fisiologiaRESUMO
A 78-year-old man who had been diagnosed with idiopathic thrombocytopenic purpura (ITP) was admitted to our hospital with chest pain, cold sweating and nausea. An electrocardiogram and echocardiogram revealed an ST elevated acute lateral myocardial infarction. He underwent an immediate cardiac catheterization. An occluded left circumflex artery was detected by coronary angiography. Reperfusion was performed successfully by non-slip element balloon angioplasty alone, without stenting, to avoid prolonged dual anti-platelet therapy. In this report we discussed the management strategies of acute myocardial infarction in a patient with concomitant ITP.
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Infarto do Miocárdio/cirurgia , Reperfusão Miocárdica/métodos , Intervenção Coronária Percutânea/métodos , Doença Aguda , Idoso , Angioplastia com Balão , Dor no Peito , Angiografia Coronária , Ecocardiografia , Eletrocardiografia , Humanos , Masculino , Infarto do Miocárdio/complicações , Púrpura Trombocitopênica Idiopática/complicaçõesRESUMO
In this study, we sought to determine whether and how an α,ß-unsaturated carbonyl, acrolein, can inhibit the growth of the cyanobacterium Synechocystis sp. PCC6803 (S. 6803). Treatment of S. 6803 with 200 µM acrolein for 3 d significantly and irreversibly inhibited its growth. To elucidate the inhibitory mechanism, we examined the effects of acrolein on photosynthesis. In contrast to dark conditions, the addition of acrolein to S. 6803 under conditions of illumination lowered the CO2-dependent O2 evolution rate (photosynthetic activity). Furthermore, treatment with acrolein lowered the activity reducing dimethyl benzoquinone in photosystem II (PSII). Acrolein also suppressed the reduction rate for the oxidized form of the reaction center chlorophyll of photosystem I (PSI), P700. These results indicate that acrolein inhibited PSII activity in thylakoid membranes. The addition of 200 µM acrolein to the illuminated S. 6803 cells gradually increased the steady-state level (Fs) of Chl fluorescence and decreased the quantum yield of PSII. These results suggested that acrolein damaged the acceptor side of PSII. On the other hand, acrolein did not inhibit respiration. From the above results, we gained insight into the metabolism of acrolein and its physiological effects in S. 6803.
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Acroleína/farmacologia , Fotossíntese/efeitos dos fármacos , Synechocystis/efeitos dos fármacos , Benzoquinonas/química , Benzoquinonas/metabolismo , Dióxido de Carbono/metabolismo , Oxigênio/metabolismo , Complexo de Proteína do Fotossistema II/efeitos dos fármacos , Synechocystis/crescimento & desenvolvimentoRESUMO
A 58-year-old man was admitted to our hospital with acute anterior myocardial infarction that occurred 4 years after single sirolimus-eluting stent (SES) implantation in the left anterior descending artery. He had been undergoing continuous dual antiplatelet therapy. Emergency coronary angiography showed total thrombotic occlusion and peri-stent contrast staining at the SES site. The lesion was evaluated using intravascular ultrasound (IVUS) and optical coherence tomography (OCT) after thrombectomy. Vessel remodeling was detected on IVUS, and multiple interstrut hollows and thrombi were observed on OCT. These findings were associated with very late stent thrombosis after SES implantation.
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Trombose Coronária/diagnóstico , Trombose Coronária/etiologia , Vasos Coronários/patologia , Stents Farmacológicos/efeitos adversos , Imunossupressores/administração & dosagem , Sirolimo/administração & dosagem , Tomografia de Coerência Óptica , Ultrassonografia de Intervenção , Trombose Coronária/diagnóstico por imagem , Vasos Coronários/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/terapia , Radiografia , TrombectomiaRESUMO
A 61-year-old Japanese male was admitted to hospital due to severe congestive heart failure and pre-renal failure with middle aortic syndrome. The patient was successfully treated with emergent aortic angioplasty and kissing stents implantation whilst in a hemodynamically unstable state. Our experience confirms that stenosis of the descending aorta when treated with catheter intervention may be palliative, however, it was a very effective method for life threatening clinical conditions in the short and mid-term and may be an alternative to surgery.
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OBJECTIVE: To identify the ankyrin-B gene mutations that cause long QT syndrome (LQTS) and determine the prevalence of such mutations in Japanese patients with LQTS. METHODS: We conducted a search for ankyrin-B gene mutation in 78 unrelated patients with LQTS (28 males and 50 females, aged 2 to 89 years). With informed consent from all the subjects and/or their parents, genomic DNA was purified from the white blood cells of the patients and amplified using polymerase chain reaction (PCR). Single-strand conformational polymorphism (SSCP) analysis of the amplified DNA was performed to screen for mutations and aberrant SSCP products were isolated and sequenced by dye terminator cycle sequencing method using an automated fluorescent sequencer. PCR and restriction fragment length polymorphism (PCR-RFLP) analysis was carried out to further confirm the missense mutations by comparison with samples from 150 normal healthy individuals. RESULTS: We identified a T to A transition mutation at position 4,603 in exon 40, resulting in the substitution of arginine for a tryptophan at amino acid residue 1,535 (W1535R) in the regulatory domain of 220-kD ankyrin-B, which is a highly conserved domain shared by different species. CONCLUSION: This novel missense mutation in the ankyrin-B gene may be a cause of type 4 LQTS. Ankyrin-B gene mutation might not play the major role in LQTS in Japanese.
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Anquirinas/genética , Síndrome do QT Longo/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos , Sequência de Bases , Criança , Pré-Escolar , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação PuntualRESUMO
It has been demonstrated previously that clinical phenotypes of HCM (hypertrophic cardiomyopathy) caused by mutations in the cardiac MyBP-C (myosin-binding protein C) gene show late onset, low penetrance and favourable clinical course. However, we have encountered severe phenotypes in several carriers of the MyBP-C gene mutations. The aim of the present study was to screen novel MyBP-C gene mutations in patients with HCM and to investigate the genetic differences in affected subjects with severe phenotypes. The MyBP-C gene was screened in 292 Japanese probands with HCM, and a novel c.2067+1G-->A mutation was present in 15 subjects in five families. Clinical phenotypes of carriers of the c.2067+1G-->A mutation were compared with those of a previously identified Arg820Gln (Arg820-->Gln) mutation in the MyBP-C gene. The disease penetrance in subjects aged > or =30 years was 90% in carriers of the c.2067+1G-->A mutation and 61% in carriers of the Arg820Gln mutation. Sudden death occurred in four subjects from three families with the c.2067+1G-->A mutation and in two subjects from one family with the Arg820Gln mutation. Two carriers of the c.2067+1G-->A mutation had substantial hypertrophy (maximal wall thickness > or =30 mm). In contrast, two carriers of the Arg820Gln mutation had end-stage HCM. In conclusion, the c.2067+1G-->A mutation is associated with HCM with substantial hypertrophy and moderate incidence of sudden death, whereas the Arg820Gln mutation is associated with end-stage HCM. These observations may provide important prognostic information regarding the clinical practice of HCM.
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Cardiomiopatia Hipertrófica/genética , Proteínas de Transporte/genética , Morte Súbita Cardíaca/etiologia , Hipertrofia Ventricular Esquerda/genética , Mutação , Adolescente , Adulto , Idoso , Sequência de Bases , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Criança , Análise Mutacional de DNA/métodos , Feminino , Predisposição Genética para Doença , Genótipo , Heterozigoto , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Penetrância , Fenótipo , Reação em Cadeia da Polimerase/métodos , Prognóstico , UltrassonografiaRESUMO
We report regression of the abnormal Q waves of an inferior old myocardial infarction after an additional anterior acute myocardial infarction, and demonstrate the scintigraphic correlation and chronological course of this phenomenon. Scintigraphic findings in the present case here may contribute to an interpretation of regression of abnormal Q waves in myocardial infarction.
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Arritmias Cardíacas/diagnóstico , Eletrocardiografia/métodos , Infarto do Miocárdio/diagnóstico , Tomografia por Emissão de Pósitrons/métodos , Tálio , Disfunção Ventricular Esquerda/diagnóstico , Idoso , Arritmias Cardíacas/etiologia , Humanos , Masculino , Infarto do Miocárdio/complicações , Compostos Radiofarmacêuticos , Fatores de Tempo , Disfunção Ventricular Esquerda/complicaçõesAssuntos
Insuficiência Cardíaca/diagnóstico por imagem , Ventrículos do Coração/patologia , Disfunção Ventricular Esquerda/diagnóstico por imagem , 3-Iodobenzilguanidina , Autopsia , Evolução Fatal , Feminino , Insuficiência Cardíaca/etiologia , Humanos , Pessoa de Meia-Idade , Cintilografia , Compostos Radiofarmacêuticos , Tecnécio Tc 99m SestamibiRESUMO
BACKGROUND: Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. METHODS AND RESULTS: A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes. CONCLUSIONS: Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.
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Cardiomiopatia Dilatada/genética , Mutação , Idoso , Proteínas de Transporte/genética , Proteínas do Citoesqueleto/genética , Morte Súbita , Distrofina/genética , Eletrocardiografia , Saúde da Família , Feminino , Frequência do Gene , Testes Genéticos , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Sarcômeros/genéticaRESUMO
AIMS: There are currently no established diagnostic criteria for the identification of abnormal Q waves in patients with hypertrophic cardiomyopathy (HCM), resulting in various definitions being applied in each previous study. The aim of this study was to determine the most accurate diagnostic definition of abnormal Q waves for HCM based on a molecular genetic diagnosis, and also to apply abnormal Q waves to the identification of preclinical carriers. METHODS AND RESULTS: We applied three different criteria used in previous reports for abnormal Q waves in 148 genotyped subjects. Of the three criteria, Criterion 3 (Q wave >3mm in depth and/or >0.04s in duration in at least two leads except aVR) showed the highest sensitivity (50% in the young, 29% in adults) while retaining a high specificity (90% in the young, 97% in adults), resulting in the highest accuracy (69% in the young, 52% in adults). Using Criterion 3, abnormal Q waves were present 27.6% of preclinical carriers, and in 5.4% of non-carriers (P<0.01). CONCLUSIONS: These findings suggest that Criterion 3 may be the most accurate diagnostic definition for HCM. Understanding the diagnostic value of abnormal Q waves may be useful in screening preclinical carriers of HCM.
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Cardiomiopatia Hipertrófica/diagnóstico , Heterozigoto , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/fisiopatologia , Criança , Ecocardiografia , Eletrocardiografia , Feminino , Triagem de Portadores Genéticos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , LinhagemRESUMO
QT dispersion (QTD) on 12-lead ECGs has been proposed as a marker of malignant ventricular tachyarrhythmias, and increased QTD has been reported in long QT syndrome (LQTS). On the other hand, it has been demonstrated that transmural dispersion is associated with ventricular tachyarrhythmias in an experimental model. However, the precise type of QTD or transmural dispersion that contributes most to ventricular tachyarrhythmias in patients with LQTS remains unclear. We evaluated 27 patients with acquired LQTS. These patients were divided into two groups: group A (n =12), patients with polymorphic ventricular tachycardia [torsades de pointes (TdP)], and group B (n =15), patients without TdP. The QT intervals were corrected using Bazett's formula. QTD was measured as the difference between the maximum and the minimum QT intervals, and T wave peak-to-end interval divided by the QT interval (Tpe) in the V5 lead was measured as a new index. Both the corrected QTD (QTDc) and Tpe were significantly larger in group A than in group B. Logistic regression analysis revealed that a reliable predictor for TdP in the QT variables in these patients was not QTDc but Tpe. Cumulative frequency distributions revealed that a Tpe of 0.28 is a good cut-off point for TdP. Tpe did not correlate with the corrected maximum QT interval, whereas the QTDc did correlate with this parameter. In conclusion, Tpe may be the best predictor for TdP in patients with acquired LQTS.
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Eletrocardiografia/métodos , Síndrome do QT Longo/complicações , Torsades de Pointes/diagnóstico , Torsades de Pointes/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Modelos Logísticos , Síndrome do QT Longo/induzido quimicamente , Síndrome do QT Longo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Processamento de Sinais Assistido por Computador , Torsades de Pointes/fisiopatologiaRESUMO
OBJECTIVES: We studied the clinical features of hypertrophic cardiomyopathy (HCM) caused by a novel mutation in the myosin binding protein-C (MyBP-C) gene in patients and family members of Japanese descent. BACKGROUND: Previous reports have demonstrated that the clinical features of HCM associated with mutations in the MyBP-C gene include late onset and a favorable clinical course. Recently, some mutations in genes encoding sarcomeric proteins have been reported to be a cause of dilated cardiomyopathy (DCM), as well as HCM. However, mutations of the MyBP-C gene have not been reported as a cause of DCM up to now. METHODS: We analyzed MyBP-C gene mutations in 250 unrelated probands with HCM and in 90 with DCM. We used electrocardiography (ECG) and echocardiography to determine clinical phenotypes. RESULTS: We identified 17 individuals in 8 families (7 HCM, 1 DCM) with an Arg820Gln mutation in the MyBP-C gene. Overall, 2 (40%) of 5 carriers age >70 years displayed "burnt-out" phase HCM, and one of them had been diagnosed as having DCM before genetic identification. The disease penetrance in subjects age >50 years was 70% by echocardiography and 100% by ECG, and that in those age <50 years was 40% and 50%, respectively. CONCLUSIONS: Elderly patients with Arg820Gln mutation may show "burnt-out" phase HCM, and patients with this mutation may be included among those diagnosed as having DCM. Screening of patients with DCM, as well as HCM, for this mutation is of significant importance because patients with this mutation may be diagnosed clinically as having DCM.
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Cardiomiopatia Dilatada/genética , Cardiomiopatia Hipertrófica/genética , Proteínas de Transporte/genética , Predisposição Genética para Doença , Mutação de Sentido Incorreto , Polimorfismo Genético , Disfunção Ventricular Esquerda/genética , Adolescente , Adulto , Distribuição por Idade , Idoso , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/epidemiologia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/epidemiologia , Estudos de Coortes , Comorbidade , Ecocardiografia , Eletrocardiografia , Feminino , Testes Genéticos , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Linhagem , Reação em Cadeia da Polimerase , Prevalência , Medição de Risco , Índice de Gravidade de Doença , Taxa de Sobrevida , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/epidemiologiaRESUMO
Glycogen storage disease type III (GSD III) is a rare autosomal recessive inherited disorder caused by a deficiency of the glycogen-debranching enzyme (AGL). We investigated two GSD III patients and identified four different mutations. Nucleotide sequence analysis revealed patient 1 of Chinese descent to be a compound heterozygote for a novel nonsense mutation, R34X, and the splicing mutation (IVS32-12A > G) reported in a Japanese patient. Patient 2 of Japanese origin was found to be compound heterozygous for a novel nonsense mutation, Y1148X, and the splicing mutation (IVS14+1G > T) that we had described previously. To determine whether splicing mutations occurred independently, we performed intense AGL haplotype analysis using 21 intragenic polymorphic markers plus a novel polymorphism IVS32-97 A/G in the vicinity of the IVS32 splicing mutation. Patient 1 of Chinese origin and the Japanese patient homozygous for the IVS32-12A > G were found to have different haplotypes, indicating the IVS32-12A > G mutation to be a recurrent mutation. This is the first recurrent mutation established by intense haplotyping in the AGL gene.