A5002495616- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Renal and related cancers
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pancreatic function and diabetes
- Oral and gingival health research
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic and Kidney Cyst Diseases
- Kruppel-like factors research
- Metabolism, Diabetes, and Cancer
- Congenital Diaphragmatic Hernia Studies
- Cancer-related gene regulation
- Neurogenetic and Muscular Disorders Research
- Sexual Differentiation and Disorders
- Congenital Anomalies and Fetal Surgery
- Genomics and Chromatin Dynamics
- Gestational Trophoblastic Disease Studies
- CRISPR and Genetic Engineering
National Center For Child Health and Development
2016-2025
Jikei University School of Medicine
2017
University of Auckland
2017
Hokkaido University
2003
We report on the clinical and molecular findings in 25 males three females with Kallmann syndrome (KS) aged 10–53 yr. Ten were from five families, remaining 15 apparently sporadic cases. Molecular studies performed for 1 (KAL1) fibroblast growth factor receptor (FGFR1, also known as KAL2) by sequence analysis all coding exons, PCR-based deletion analysis, fluorescence situ hybridization (FISH) showing six novel two recurrent intragenic KAL1 mutations seven familial four male cases FGFR1 In...
Human chromosome 14q32.2 harbors the germline-derived primary DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and postfertilization-derived secondary MEG3-DMR, together with multiple imprinted genes. Although previous studies in cases microdeletions epimutations affecting both DMRs paternal/maternal uniparental disomy 14-like phenotypes argue for a critical regulatory function of two region, precise role individual DMR remains to be clarified. We studied an infant upd(14)pat...
Human-assisted reproductive technologies (ART) are a widely accepted treatment for infertile couples. At the same time, many studies have suggested correlation between ART and increased incidences of normally rare imprinting disorders such as Beckwith-Wiedemann syndrome (BWS), Angelman (AS), Prader-Willi (PWS), Silver-Russell (SRS). Major methylation dynamics take place during cell development preimplantation stages embryonic development. may prevent proper erasure, establishment,...
There is an increased incidence of rare imprinting disorders associated with assisted reproduction technologies (ARTs). The identification epigenetic changes at imprinted loci in ART infants has led to the suggestion that techniques themselves may predispose embryos acquire errors and diseases. However, it still unknown what point(s) these arise, or risk factors. In 2009 we conducted a Japanese nationwide epidemiological study four well-known diseases determine any association ART. Using...
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed studies for TS14 356 variable phenotypes, all patients, including 13 previously reported.ResultsWe identified 19 new TS14, total of was made up 23 maternal uniparental disomy (UPD(14)mat), six epimutations, three microdeletions. Clinical revealed both Prader-Willi...
Paternal uniparental disomy 14 (UPD(14)pat) and epimutations microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with coat-hanger appearance ribs, abdominal wall defects, placentomegaly, polyhydramnios. In this study, we performed comprehensive studies in patients UPD(14)pat (n=23), (n=5), (n=6), revealed several notable findings. First, full cheeks protruding...
Imprinting disorders are a group of congenital diseases which characterized by molecular alterations affecting differentially methylated regions (DMRs). To date, at least twelve imprinting have been defined with overlapping but variable clinical features including growth and metabolic disturbances, cognitive dysfunction, abdominal wall defects asymmetry. In general, single specific DMR is affected in an individual given disorder, there growing number reports on individuals so-called...
Maternal uniparental disomy 14 (UPD(14)mat) and related (epi)genetic aberrations affecting the 14q32.2 imprinted region result in a clinically recognizable condition which is recently referred to as Temple Syndrome (TS). Phenotypic features TS include pre- post-natal growth failure, prominent forehead, feeding difficulties that are also found Silver-Russell (SRS). Thus, we examined relevance of UPD(14)mat development SRS 85 Japanese patients who satisfied diagnostic criteria proposed by...
Recent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation the H19-differentially methylated region (DMR) uniparental maternal disomy 7 (upd(7)mat), as well multilocus methylation abnormalities positive correlation between index body placental sizes in H19-DMR epimutation. Furthermore, rare genomic alterations been found a few patients with idiopathic SRS. Here, we performed molecular...
Abstract Background Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that expressed from only one parental allele. Disease may result in coding sequences, copy number changes, uniparental disomy imprinting defects. Some disorders clinically heterogeneous, some associated with more than imprinted locus, patients have alterations affecting multiple loci. Most diagnosed stepwise analysis of gene dosage...
Maternal uniparental disomy for chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the GNAS locus, is a poorly characterized condition. These patients manifested phenotype similar to that Silver-Russell syndrome (SRS) and small gestational age-short stature (SGA-SS); however, etiological relationship between UPD(20)mat SRS/SGA-SS remains unclear. Moreover, no report has described endocrinological assessment patients, although paternal UPD(20), mirror...
Aim: This study aimed to establish a catalog of probes corresponding imprinted differentially methylated regions (DMRs) on the Infinium HumanMethylationEPIC BeadChip. Materials & methods: Reciprocal uniparental diploidies with low normal biparental mosaic contribution, together diploid controls, were subjected EPIC BeadChip hybridization. The methylation profiles assessed for differential methylation. Top candidates validated using locus-specific PCR-based assays. Results: Seven hundred and...
Abstract Background Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss methylation on chromosome 11p15 (11p15 LOM) maternal uniparental disomy 7 (upd(7)mat). However, IGF2 , CDKN1C HMGA2 PLAG1 mutations infrequently cause SRS. In addition, other imprinting disturbances, pathogenic copy number variations (PCNVs), monogenic disorders sometimes lead to phenotype. This study aimed clarify the frequency clinical...
Understanding the influence of both genetics and environment on human health, especially early in life, is essential for shaping long-term health. Here, we utilize a nationwide prospective birth cohort, Japan Environment Children's Study (JECS), to conduct large-scale population-based genetic study using biannual questionnaire surveys biological physical measurements collected from parents their children since participant mothers were pregnant. Analyses genome-wide genotyping 80,638 child...
The patient was a second child prenatally diagnosed with Joubert syndrome (JS) by ultrasound examination and family history of first JS. After birth, the also Beckwith-Wiedemann syndrome. Here, we report this case as lesson on importance focusing diagnosing hereditary disease considering possibility development genetic when providing treatment. We were able to confirm diagnosis both syndromes detailed testing after allowing counseling for future treatment next pregnancy.