当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes.

Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes.

Abstract：

:The aim of this study was to investigate the genetic background of familial clustering of diabetes using genome-wide linkage analysis combined with exome sequencing. We recruited a Japanese family with a 3-generation history of diabetes. The family comprised 16 members, 13 having been diagnosed with diabetes. Nine members had been diagnosed before the age of 40. Linkage analysis was performed assuming an autosomal dominant model. Linkage regions were observed on chromosomes 4q34, 5q11-q13, and 12p11-q22 and the logarithm of odds (LOD) scores were 1.80. To identify the susceptibility variants, we performed exome sequencing of an affected family member. We predicted that the familial clustering of diabetes is caused by a rare non-synonymous variant, and focused our analysis on non-synonymous variants absent in dbSNP131. Exome sequencing identified 10 such variants in the linkage regions, 7 of which were concordant with the affection status in the family. One hundred five normal subjects and 67 lean diabetes subjects were genotyped for the 7 variants; the only variant found to be significantly more frequent in the diabetes subjects than in the normal subjects was the N1072K variant of the early endosome antigen 1 (EEA1) gene (0 in normal subjects and 4 in diabetes subjects, p=0.022). We therefore propose that the N1072K variant of the EEA1 gene is a candidate mutation for susceptibility to diabetes in the Japanese population.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Tanaka D,Nagashima K,Sasaki M,Funakoshi S,Kondo Y,Yasuda K,Koizumi A,Inagaki N

doi

10.1016/j.ymgme.2013.02.010

subject

Has Abstract

pub_date

2013-05-01 00:00:00

pages

112-7

issue

1

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(13)00068-1

journal_volume

109

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.

    abstract：:Medicine is rapidly applying exome and genome sequencing to the diagnosis and management of human disease. Somatic mosaicism, however, is not readily detectable by these means, and yet it accounts for a significant portion of undiagnosed disease. We present a rapid and sensitive method, the Continuous Distribution Fun...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.12.015

    authors： Markello TC,Carlson-Donohoe H,Sincan M,Adams D,Bodine DM,Farrar JE,Vlachos A,Lipton JM,Auerbach AD,Ostrander EA,Chandrasekharappa SC,Boerkoel CF,Gahl WA

    更新日期：2012-04-01 00:00:00

  • Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

    abstract：:A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propion...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.09.007

    authors： Mochel F,DeLonlay P,Touati G,Brunengraber H,Kinman RP,Rabier D,Roe CR,Saudubray JM

    更新日期：2005-04-01 00:00:00

  • Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

    abstract：:Gaucher disease (GD) is an autosomal-recessive lysosomal storage disease caused by a deficiency of the enzyme, glucocerebrocidase, resulting in accumulation of lipid-laden storage cells in multiple organs such as bone marrow, liver, spleen, and lungs. Type 1 Gaucher disease is the most common form of this condition in...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.10.013

    authors： Serai SD,Naidu AP,Andrew Burrow T,Prada CE,Xanthakos S,Towbin AJ

    更新日期：2018-03-01 00:00:00

  • Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.

    abstract：:Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were stud...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.06.023

    authors： Gaeta M,Barca E,Ruggeri P,Minutoli F,Rodolico C,Mazziotti S,Milardi D,Musumeci O,Toscano A

    更新日期：2013-11-01 00:00:00

  • A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

    abstract：:3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was c...

    journal_title：Molecular genetics and metabolism

    pub_type： 共识发展会议,杂志文章,实务指引

    doi：10.1016/j.ymgme.2007.11.002

    authors： Arnold GL,Koeberl DD,Matern D,Barshop B,Braverman N,Burton B,Cederbaum S,Fiegenbaum A,Garganta C,Gibson J,Goodman SI,Harding C,Kahler S,Kronn D,Longo N

    更新日期：2008-04-01 00:00:00

  • The higher susceptibility of congenital analbuminemic rats to Ca2+-induced mitochondrial permeability transition is associated with the increased expression of cyclophilin D and nitrosothiol depletion.

    abstract：:Congenital analbuminemia is a rare autosomal recessive disorder characterized by a trace level of albumin in blood plasma and mild clinical symptoms. Analbuminemic patients generally present associated abnormalities, among which dyslipidemia is a hallmark. In this study, we show that mitochondria isolated from differe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.08.031

    authors： Figueira TR,Castilho RF,Saito A,Oliveira HC,Vercesi AE

    更新日期：2011-12-01 00:00:00

  • Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

    abstract：:We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient's fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect, demonstrating the mit...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.08.003

    authors： Ugalde C,Hinttala R,Timal S,Smeets R,Rodenburg RJ,Uusimaa J,van Heuvel LP,Nijtmans LG,Majamaa K,Smeitink JA

    更新日期：2007-01-01 00:00:00

  • Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

    abstract：:Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller family that includes six individuals presenting with acute liver failure in the first few months of life. Additional symptoms include anaemia, renal tubulopathy, dev...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.04.017

    authors： Casey JP,McGettigan P,Lynam-Lennon N,McDermott M,Regan R,Conroy J,Bourke B,O'Sullivan J,Crushell E,Lynch S,Ennis S

    更新日期：2012-07-01 00:00:00

  • Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).

    abstract：:The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by ponto-bulbar palsy, bilateral sensorineural deafness, and respiratory insufficiency. Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter -2 (hRFT-2) and s...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.12.021

    authors： Nabokina SM,Subramanian VS,Said HM

    更新日期：2012-04-01 00:00:00

  • Increased expression of anti-apoptosis genes in peripheral blood cells from patients with paroxysmal nocturnal hemoglobinuria.

    abstract：:Resistance to apoptosis has been described in neutrophils from patients with PNH and related hematologic disorders (aplastic anemia, myelodysplastic syndrome), but its molecular basis is not understood. Using gene expression analysis, PNH granulocytes had relative overexpression of four anti-apoptosis genes (human A1,...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(03)00047-7

    authors： Heeney MM,Ormsbee SM,Moody MA,Howard TA,DeCastro CM,Ware RE

    更新日期：2003-04-01 00:00:00

  • Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

    abstract：:Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons wi...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2733

    authors： Li L,Eng C,Desnick RJ,German J,Ellis NA

    更新日期：1998-08-01 00:00:00

  • Rare Saposin A deficiency: Novel variant and psychosine analysis.

    abstract：:Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe diseas...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2019.08.001

    authors： Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

    更新日期：2020-02-01 00:00:00

  • Carnitine transport by organic cation transporters and systemic carnitine deficiency.

    abstract：:The intracellular homeostasis is controlled by different membrane transporters. Organic cation transporters function primarily in the elimination of cationic drugs, endogenous amines, and other xenobiotics in tissues such as the kidney, intestine, and liver. Among these molecules, carnitine is an endogenous amine whic...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.2001.3207

    authors： Lahjouji K,Mitchell GA,Qureshi IA

    更新日期：2001-08-01 00:00:00

  • A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.

    abstract：:We determined the ability of self-complementary adeno-associated virus (scAAV) vectors to deliver and express the pyruvate dehydrogenase E1alpha subunit gene (PDHA1) in primary cultures of skin fibroblasts from 3 patients with defined mutations in PHDA1 and 3 healthy subjects. Cells were transduced with scAAV vectors ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.131

    authors： Han Z,Berendzen K,Zhong L,Surolia I,Chouthai N,Zhao W,Maina N,Srivastava A,Stacpoole PW

    更新日期：2008-04-01 00:00:00

  • Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.

    abstract：:Tetrahydrobiopterin (BH4) responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently recognized subtype of hyperphenylalaninemia characterized by a positive BH4 loading test. According to recent estimates, this phenotype may be quite common, suggesting that a large group of ind...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.06.007

    authors： Desviat LR,Pérez B,Bèlanger-Quintana A,Castro M,Aguado C,Sánchez A,García MJ,Martínez-Pardo M,Ugarte M

    更新日期：2004-09-01 00:00:00

  • Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

    abstract：:Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by variable degrees of oculocutaneous albinism, easy bruisability, and bleeding as a result of deficient platelet dense bodies, and recurrent infections, with neutropenia, impaired chemotaxis and bactericidal activity, and abnormal NK ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.1999.2927

    authors： Introne W,Boissy RE,Gahl WA

    更新日期：1999-10-01 00:00:00

  • Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

    abstract：BACKGROUND:Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results in a dysfunctional mitochondrial enzyme, which prevents the synthesis of citr...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2014.05.007

    authors： Sprouse C,King J,Helman G,Pacheco-Colón I,Shattuck K,Breeden A,Seltzer R,VanMeter JW,Gropman AL

    更新日期：2014-09-01 00:00:00

  • Therapies for mitochondrial diseases and current clinical trials.

    abstract：:Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular defects in genes encoding mitochondrial proteins. Despite the advances in molecular and biochemical methodologies leading to better under...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2017.09.009

    authors： El-Hattab AW,Zarante AM,Almannai M,Scaglia F

    更新日期：2017-11-01 00:00:00

  • Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

    abstract：:Derivatives of 4-methylumbelliferone (4MU) are favorite substrates for the measurement of lysosomal enzyme activities in a wide variety of cell and tissue specimens. Hydrolysis of these artificial substrates at acidic pH leads to the formation of 4-methylumbelliferone, which is highly fluorescent at a pH above 10. Whe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.09.008

    authors： Oemardien LF,Boer AM,Ruijter GJ,van der Ploeg AT,de Klerk JB,Reuser AJ,Verheijen FW

    更新日期：2011-01-01 00:00:00

  • Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

    abstract：:Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol. ABL is caused by mutations of the MTP gene. We investigated the genetic basis for ABL in a cohort of ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2006.12.010

    authors： Benayoun L,Granot E,Rizel L,Allon-Shalev S,Behar DM,Ben-Yosef T

    更新日期：2007-04-01 00:00:00

  • Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

    abstract：:We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.09.021

    authors： Tein I,Elpeleg O,Ben-Zeev B,Korman SH,Lossos A,Lev D,Lerman-Sagie T,Leshinsky-Silver E,Vockley J,Berry GT,Lamhonwah AM,Matern D,Roe CR,Gregersen N

    更新日期：2008-02-01 00:00:00

  • Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome.

    abstract：:Previous studies from this laboratory have shown that maternal-derived cholesterol can be effluxed from trophoblasts to fetal HDL and plasma. We had the opportunity to study for the first time the ability of HDL and plasma from a fetus with the Smith-Lemli-Opitz syndrome (SLOS) to efflux cholesterol from trophoblasts....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.01.015

    authors： Jenkins KT,Merkens LS,Tubb MR,Myatt L,Davidson WS,Steiner RD,Woollett LA

    更新日期：2008-06-01 00:00:00

  • Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

    abstract：:Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different r...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3168

    authors： Lindner M,Haas D,Mayatepek E,Zschocke J,Burgard P

    更新日期：2001-05-01 00:00:00

  • Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

    abstract：:Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few sym...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2019.03.003

    authors： Yanagisawa H,Hossain MA,Miyajima T,Nagao K,Miyashita T,Eto Y

    更新日期：2019-04-01 00:00:00

  • Stop codon read-through of a methylmalonic aciduria mutation.

    abstract：:A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. There are currently limited treatment regimes for patients with this inherited condition. We aimed to investigate the use of stop codon read-th...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.04.004

    authors： Buck NE,Wood L,Hu R,Peters HL

    更新日期：2009-08-01 00:00:00

  • Molecular genetics of HMG-CoA lyase deficiency.

    abstract：:3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism, which generally appears during the first year of life. Patients with HL deficiency have a reduced capacity to synthesize ketone bodies. The disease is caused by lethal ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2007.06.020

    authors： Pié J,López-Viñas E,Puisac B,Menao S,Pié A,Casale C,Ramos FJ,Hegardt FG,Gómez-Puertas P,Casals N

    更新日期：2007-11-01 00:00:00

  • Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.

    abstract：:The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on d...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.ymgme.2010.07.006

    authors： Moat S,Carling R,Nix A,Henderson M,Briddon A,Prunty H,Talbot R,Powell A,Wright K,Fuchs S,de Koning T

    更新日期：2010-10-01 00:00:00

  • A high throughput beta-globin genotyping method by multiplexed melting temperature analysis.

    abstract：:For a population-based newborn screening program, challenges exist in using technological advances to improve the quality and efficiency of the existing screening program and to develop new diagnostic capabilities. A newly developed genotyping method for screening of common mutations within the beta-globin gene is des...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2003.12.007

    authors： Lin Z,Suzow JG,Fontaine JM,Naylor EW

    更新日期：2004-03-01 00:00:00

  • Simple and inexpensive quantification of ammonia in whole blood.

    abstract：:Quantification of ammonia in whole blood has applications in the diagnosis and management of many hepatic diseases, including cirrhosis and rare urea cycle disorders, amounting to more than 5 million patients in the United States. Current techniques for ammonia measurement suffer from limited range, poor resolution, f...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.04.004

    authors： Ayyub OB,Behrens AM,Heligman BT,Natoli ME,Ayoub JJ,Cunningham G,Summar M,Kofinas P

    更新日期：2015-06-01 00:00:00

  • Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

    abstract：:Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with the genetic deficiency of human lysosomal acid lipase/cholesterol ester hydrolase (hLAL) function were investigated with the determination of HLAL activity levels, mRNA and protein expressio...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2904

    authors： Anderson RA,Bryson GM,Parks JS

    更新日期：1999-11-01 00:00:00