A5076766482- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- RNA regulation and disease
- Autophagy in Disease and Therapy
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Renal and related cancers
- Blood Coagulation and Thrombosis Mechanisms
- Vascular Malformations and Hemangiomas
- Acute Ischemic Stroke Management
- RNA Research and Splicing
- Hedgehog Signaling Pathway Studies
- Microtubule and mitosis dynamics
- RNA and protein synthesis mechanisms
- Immunodeficiency and Autoimmune Disorders
- Pediatric Urology and Nephrology Studies
- Vascular Anomalies and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Tuberculosis Research and Epidemiology
- ATP Synthase and ATPases Research
- Congenital heart defects research
Nagoya City University
2015-2025
Kinan Hospital
2023
Mizuho (Japan)
2017-2019
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, gene that encodes key autophagy regulator, have been shown to cause VICIS, however, precise pathomechanism underlying VICIS yet be clarified. Here, we describe detailed clinical (including brain MRI muscle biopsy)...
Epilepsy with myoclonic absences is a specific seizure type characterized by bilateral rhythmic clonic jerks impairment of consciousness. Here, we report an individual epilepsy absences, mild intellectual disabilities, language disorder, and autism spectrum disorder. His interictal electroencephalogram revealed spike-and-slow wave complex dominant in the frontal area. ictal polygraphic video-electroencephalogram showed characteristic diffuse synchronous 3-Hz spike-and-wave burst associated...
Bainbridge–Ropers syndrome (BRPS) is characterized by severe developmental delay, feeding problems, short stature, characteristic facal appearance including arched eyebrows and anteverted nares, ulnar deviation of the hands. BRPS caused a heterozygous mutation in additional sex combs‐like 3 ( ASXL3 ) gene. We describe patient with autism, sleep disturbance de novo splicing Reported disease‐causing mutations are located mostly first half exon 11, analogous to ASXL1 which result Bohring–Opitz...
Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which caused by truncating variant in maternally imprinted MAGEL2 located 15q11-q13 . Yet, precise pathomechanism remains to be solved. We sequenced patients suspected Prader-Willi (PWS) delineate clinical presentation of SYS. examined 105 with clinically PWS but without specific genetic alteration. Sanger sequencing the entire gene and methylation-specific restriction enzyme treatment detect...
Chromosome 1p32-p31 deletion syndrome involving the Nuclear factor I/A (NFIA) gene is characterized by corpus callosum hypoplasia or defects and urinary tract defects. Herein we report on a case resembling carrying de novo truncating mutation (c.1094delC; p.Pro365Hisfs*32) in NFIA gene, confirming that haploinsufficiency of major determinant this syndrome.
Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence involvement patients with remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination genetic biochemical methods for mTOR pathway-associated megalencephaly, attempted delineate clinical characteristics disorder.Thirteen an increased head circumference neurological symptoms participated study. To evaluate...
<h3>Background</h3> Heterozygous mutations in <i>CTCF</i> have been reported patients with distinct clinical features including intellectual disability. However, the precise pathomechanism underlying phenotype remains to be uncovered, partly because of diverse function CTCF. Here we describe extensive and genetic investigation for two a microdeletion encompassing <i>CTCF</i>. <h3>Methods</h3> We performed examination comprehensive X chromosome inactivation DNA methylation profiling at...
Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients CHH.We enrolled 22 CHH from 21 families (18 KS 4 nCHH) analyzed 27 genes implicated by next-generation Sanger sequencing.We detected 12 potentially pathogenic mutations 11 families, three having a mutation ANOS1 (X-linked recessive); four FGFR1 CHD7, respectively...
In this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with undiagnosed neurodevelopmental disorder megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. We then explored underlying molecular mechanism.Trio-based, whole-exome sequencing was performed disease-causing mutation. Biochemical cell biological analyses were carried out elucidate pathophysiological significance of...
Abstract Background Few population‐based surveys of childhood arterial ischemic stroke ( AIS ) have been conducted in Asian countries. The aim this study was to investigate the clinical features, time diagnosis, and prognosis a cohort Japan. Methods Children aged 29 days–15 years 11 months old, residing Aichi Prefecture Japan with radiologically confirmed during 2010–2014, were identified retrospectively through questionnaires. We analyzed 40 children (23 boys, 17 girls; median age, 7 3...
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function maternal UBE3A. The major cause AS deletion in 15q11.2-q13, and minor causes are UBE3A mutation, uniparental disomy (UPD), imprinting defect (ID). Previous reports suggest that all patients with exhibit developmental delay, movement or balance disorders, behavioral characteristics, speech impairment. In contrast, substantial number UPD, ID were reported not to show these consistent features...
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome males. We identified a novel splicing (NM_006359.2:c.1141-8C>A) seven-year-old boy with microcephaly, severe developmental delay, and intractable epilepsy. Functional analysis found multiple aberrant transcripts, none which maintained the canonical open reading frame. Computer prediction tools, however, failed to detect all transcripts.
TBC1D24 ‐related disorders are rare neurodevelopmental that show a broad range of neuropsychiatric deficits and mostly inherited in an autosomal recessive manner. Here we describe case with early‐onset epileptic encephalopathy, whom exome sequencing detected novel pathogenic homozygous c.442G>A, p.(Glu148Lys) variant . She showed severe developmental delay, congenital sensorineural hearing loss seizures, but the combination high dose phenobarbital potassium bromide was very effective for...
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected c.974+3A>G variant CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared the previously reported cases. This report, therefore, provides evidence genotype-phenotype...
Abstract Diffuse alveolar hemorrhage ( DAH ) is a rare disease characterized by dyspnea, cough, hemoptysis, and new infiltrates. Among the various underlying disorders, vasculitis believed to play significant role in pathogenesis of . Here we report first case patient with D own syndrome who developed secondary anti‐neutrophil cytoplasmic antibody‐associated vasculitis. This highlights significance as well pulmonary hypoplasia vulnerability associated development