Abstract:
:Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished by acylcarnitine analysis performed using tandem mass spectrometry. We had previously reported the CPT2 genetic structure and its role in CPT2 deficiency. Here, we analyzed the CACT gene in 2 patients diagnosed clinically with CACT deficiency, 18 patients with non-traumatic rhabdomyolysis and 58 healthy individuals, all of whom were confirmed to have normal CPT2 genotypes. To facilitate CACT genotyping, we used heat-denaturing high-performance liquid chromatography (DHPLC), which helped identify five distinct patterns. The abnormal heteroduplex fragments were subjected to CACT-specific DNA sequencing. We found that one patient with CACT deficiency, Case 1, carried c.576G>A and c.199-10t>g mutations, whereas Case 2 was heterozygous for c.106-2a>t and c.576G>A. We also found that one patient with non-traumatic rhabdomyolysis and one healthy individual were heterozygous for c.804delG and the synonymous mutation c.516T>C, respectively. In summary, c.576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations. Among the five mutations identified, three were responsible for CACT deficiency. We have also demonstrated the successful screening of CACT mutations by DHPLC.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Fukushima T,Kaneoka H,Yasuno T,Sasaguri Y,Tokuyasu T,Tokoro K,Fukao T,Saito Tdoi
10.1038/jhg.2013.103subject
Has Abstractpub_date
2013-12-01 00:00:00pages
788-93issue
12eissn
1434-5161issn
1435-232Xpii
jhg2013103journal_volume
58pub_type
杂志文章abstract::The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00889-4
更新日期:2021-01-06 00:00:00
abstract::Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal b...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0069-2
更新日期:2006-01-01 00:00:00
abstract::Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050148
更新日期:1999-01-01 00:00:00
abstract::Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.38
更新日期:2017-08-01 00:00:00
abstract::The prevalence of spermatogenic failure (SF) has gradually increased during the past few decades at least in several countries. Although multiple factors would be involved in this phenomenon, one important factor would be excessive estrogen effects via estrogen receptors (ERs). Thus, we performed haplotype analysis of...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.53
更新日期:2012-07-01 00:00:00
abstract::Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200050
更新日期:2002-01-01 00:00:00
abstract::Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.67
更新日期:2013-09-01 00:00:00
abstract::Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.140
更新日期:2011-01-01 00:00:00
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 ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0765-3
更新日期:2020-09-01 00:00:00
abstract::L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involve...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.4
更新日期:2014-04-01 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::This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050184
更新日期:1999-01-01 00:00:00
abstract::Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0680-7
更新日期:2020-01-01 00:00:00
abstract::We determined polymorphism in the serotonin (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) in 501 healthy Japanese, individuals, using the polymerase chain reaction of Lesch et al., with minor modifications. The distribution of allele frequencies was determined and found to differ from that in Caucasians...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050098
更新日期:1999-01-01 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::We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050038
更新日期:1998-01-01 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::A full-length cDNA encoding a novel protein was isolated and sequenced from a human placental cDNA library. This cDNA consists of 1,735 base pairs and has a predicted open reading frame (ORF) encoding 354 amino acids. It possesses a putative signal sequence, a long extracellular domain, a transmembrane region, a short...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070013
更新日期:2000-01-01 00:00:00
abstract::Many gene variants are involved in the susceptibility to schizophrenia and some of them are expected to be associated with other human characters. Recently reported meta-analysis of genetic associations revealed nucleotide variants in synaptic vesicular transport/Golgi apparatus genes with schizophrenia. In this study...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.72
更新日期:2010-09-01 00:00:00
abstract::Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencin...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0135-6
更新日期:2004-01-01 00:00:00
abstract::Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chrom...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.114
更新日期:2015-03-01 00:00:00
abstract::Genomic diversity based on 13 short tandem repeat (STR) loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, and CSF1PO) is reported for the first time in Basques from the provinces of Guipúzcoa and Navarre (Spain). STR data from previous studies on Basques from Alava and Viz...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0268-2
更新日期:2005-01-01 00:00:00
abstract::Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200008
更新日期:2002-01-01 00:00:00
abstract::Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region wa...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0392-7
更新日期:2006-01-01 00:00:00
abstract::The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00824-7
更新日期:2021-03-01 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::Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and sensorineural hearing loss. Its mode of inheritance in affected families has usually been autosomal recessive, although autosomal dominant inheritance and incomplete penetrance have also been repo...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.70
更新日期:2012-09-01 00:00:00
abstract::The genomes of outbred populations were first shown in 2006 to contain regions of homozygosity (ROHs) of several megabases. Further studies have also investigated the characteristics of ROHs in healthy individuals in various populations but there are no studies on Singapore populations to date. This study aims to iden...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.132
更新日期:2012-02-01 00:00:00
abstract::Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for unbalanced live-born offspring, miscarriages, or other fertility pro...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0769-z
更新日期:2020-09-01 00:00:00
abstract::Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2017.91
更新日期:2017-12-01 00:00:00