Abstract:
:Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. In this study, we identified two novel homozygous ITPA variants, c.264-1 G > A and c.489-1 G > A, in two unrelated consanguineous families. The probands had epilepsy, microcephaly with characteristic magnetic resonance imaging findings (T2 hyperintensity signals in the pyramidal tracts of the internal capsule, delayed myelination, and thin corpus callosum), hypotonia, and developmental delay; both died in early infancy. Our report expands the knowledge of clinical consequences of biallelic ITPA variants.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Sakamoto M,Kouhei D,Haniffa M,Silva S,Troncoso M,Santander P,Schonstedt V,Stecher X,Okamoto N,Hamanaka K,Mizuguchi T,Mitsuhashi S,Miyake N,Matsumoto Ndoi
10.1038/s10038-020-0765-3subject
Has Abstractpub_date
2020-09-01 00:00:00pages
751-757issue
9eissn
1434-5161issn
1435-232Xpii
10.1038/s10038-020-0765-3journal_volume
65pub_type
杂志文章abstract::An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease. ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050194
更新日期:1999-01-01 00:00:00
abstract::The CSR (cellular stress response) gene encodes a protein that structurally resembles the macrophage scavenger receptor, and is a potent regulator of intracellular reactive oxygen intermediates. We found a polymorphic dinucleotide repeat in the first intron of the CSR gene. This polymorphism will be a useful genetic m...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050074
更新日期:1998-01-01 00:00:00
abstract::Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0193-9
更新日期:2004-01-01 00:00:00
abstract::A sample of central Argentina (Córdoba) was genotyped for the first hypervariable region (HVS-I) plus a set of coding region mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) (N = 102) and compared with a data set of Y-chromosome short tandem repeats (Y-STRs; N = 100) previously genotyped in the same in...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0297-8
更新日期:2008-01-01 00:00:00
abstract::Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clu...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.26
更新日期:2012-05-01 00:00:00
abstract::Increased pulse pressure (PP) and decreased mean arterial pressure (MAP) are strong prognostic predictors of adverse cardiovascular events. Recently, the International Consortium for Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) reported eight loci that influenced PP and MAP. The ICBP-GWAS examined 51 coh...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.31
更新日期:2012-06-01 00:00:00
abstract::Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00859-w
更新日期:2021-03-01 00:00:00
abstract::When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.86
更新日期:2012-10-01 00:00:00
abstract::Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200043
更新日期:2002-01-01 00:00:00
abstract::Mutations in the voltage-gated chloride/proton antiporter ClC-5 gene, CLCN5, are associated with Dent's disease, an X-linked renal tubulopathy. Our interest is to identify and characterize disease-causing CLCN5 mutations, especially those that alter the splicing of the pre-mRNA. We analyzed the CLCN5 gene from nine un...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0112-y
更新日期:2007-01-01 00:00:00
abstract::Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.34
更新日期:2012-06-01 00:00:00
abstract::Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0352-4
更新日期:2018-02-01 00:00:00
abstract::Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer p...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.4
更新日期:2016-06-01 00:00:00
abstract::We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170029
更新日期:2001-01-01 00:00:00
abstract::Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070029
更新日期:2000-01-01 00:00:00
abstract::Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene enco...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0542-8
更新日期:2019-02-01 00:00:00
abstract::Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed. All the...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.155
更新日期:2011-02-01 00:00:00
abstract::The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GD...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2008.13
更新日期:2009-02-01 00:00:00
abstract::Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.2
更新日期:2015-04-01 00:00:00
abstract::A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0249-3
更新日期:2008-01-01 00:00:00
abstract::The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0816-9
更新日期:2021-02-01 00:00:00
abstract::We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200072
更新日期:2002-01-01 00:00:00
abstract::Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a major role in COS etiology, yet, only a few single gene mutations have been discovered. Here we present a diagnostic whole-exome sequencing (WES) in an Israeli ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00846-1
更新日期:2021-03-01 00:00:00
abstract::Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. N...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0630-4
更新日期:2019-09-01 00:00:00
abstract::Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.136
更新日期:2016-03-01 00:00:00
abstract::Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 a...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.122
更新日期:2010-01-01 00:00:00
abstract::Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple H...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.32
更新日期:2016-08-01 00:00:00
abstract::We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.106
更新日期:2010-11-01 00:00:00
abstract::Two novel mutations in the gene encoding T-protein, a component of the glycine cleavage system, were identified in a Japanese family with nonketotic hyperglycinemia. The proband had two affected sibs, and enzymatic analysis of the liver sample from the proband revealed the T-protein deficiency. The first mutation, 183...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050055
更新日期:1998-01-01 00:00:00
abstract::Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and in...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0558-0
更新日期:2019-04-01 00:00:00