当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Abstract：

:Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by sequencing the ALPL gene by Sanger methodology. Osteogenesis imperfecta (OI) and campomelic dysplasia (CD) are the main differential diagnoses of severe HPP, so that in case of negative result for ALPL mutations, OI and CD genes had often to be analyzed, lengthening the time before diagnosis. We report here our 18-month experience in testing 46 patients for HPP and differential diagnosis by targeted NGS and show that this strategy is efficient and useful. We used an array including ALPL gene, genes of differential diagnosis COL1A1 and COL1A2 that represent 90% of OI cases, SOX9, responsible for CD, and 8 potentially modifier genes of HPP. Seventeen patients were found to carry a mutation in one of these genes. Among them, only 10 out of 15 cases referred for HPP carried a mutation in ALPL and 5 carried a mutation in COL1A1 or COL1A2. Interestingly, three of these patients were adults with fractures and/or low BMD. Our results indicate that HPP and OI may be easily misdiagnosed in the prenatal stage but also in adults with mild symptoms for these diseases.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Taillandier A,Domingues C,De Cazanove C,Porquet-Bordes V,Monnot S,Kiffer-Moreira T,Rothenbuhler A,Guggenbuhl P,Cormier C,Baujat G,Debiais F,Capri Y,Cohen-Solal M,Parent P,Chiesa J,Dieux A,Petit F,Roume J,Isnard M,Co

doi

10.1016/j.ymgme.2015.09.010

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

215-20

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(15)30056-1

journal_volume

116

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.

    abstract：:Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of the human LH/ chorionic gonadotropin receptor (LHR) and the FSH receptor (FSHR) leading to either constitutive activation or inactivation of the receptors have been identified. All activatin...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1006/mgme.1997.2650

    authors： Chan WY

    更新日期：1998-02-01 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

  • 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

  • Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

    abstract：:Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2018.01.005

    authors： Ahrens-Nicklas R,Schlotawa L,Ballabio A,Brunetti-Pierri N,De Castro M,Dierks T,Eichler F,Ficicioglu C,Finglas A,Gaertner J,Kirmse B,Klepper J,Lee M,Olsen A,Parenti G,Vossough A,Vanderver A,Adang LA

    更新日期：2018-03-01 00:00:00

  • Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

    abstract：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2872

    authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

    更新日期：1999-08-01 00:00:00

  • A common variant near the PRL gene is associated with increased adiposity in males.

    abstract：:A common variant (rs4712652) adjacent to the prolactin gene was recently associated with obesity using a genome-wide association study. The aim of this study was to replicate the association between rs4712652 and obesity and further examine if rs4712652 is associated with fat percentage and adiponectin levels in a pop...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.08.017

    authors： Nilsson L,Olsson AH,Isomaa B,Groop L,Billig H,Ling C

    更新日期：2011-01-01 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

  • Swallowing dysfunction in patients with nephropathic cystinosis.

    abstract：INTRODUCTION:Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is me...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2019.01.011

    authors： van Rijssel AE,Knuijt S,Veys K,Levtchenko EN,Janssen MCH

    更新日期：2019-04-01 00:00:00

  • Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice.

    abstract：:Orthotopic liver transplant (OLT) significantly improves patient outcomes in maple syrup urine disease (MSUD; OMIM: 248600), yet organ shortages point to the need for alternative therapies. Hepatocyte transplantation has shown both clinical and preclinical efficacy as an intervention for metabolic liver diseases, yet ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2013.02.011

    authors： Skvorak KJ,Dorko K,Marongiu F,Tahan V,Hansel MC,Gramignoli R,Arning E,Bottiglieri T,Gibson KM,Strom SC

    更新日期：2013-06-01 00:00:00

  • Epstein-Barr virus-infected marmoset cells transfected with c-myc do not form lymphomas in mice with severe combined immunodeficiency.

    abstract：:Epstein-Barr virus (EBV) has been associated with several malignant processes in man, most notably Burkitt lymphoma in previously healthy individuals and lesions resembling large cell non-Hodgkin lymphomas in organ transplant recipients. Mice with the severe combined immunodeficiency phenotype (SCID mice) are exquisit...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2708

    authors： Salimi B,O'Gorman MR,Variakojis D,Bendet M,Newman M,Poupko E,Katz BZ

    更新日期：1998-07-01 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

  • New frontiers in neuroimaging applications to inborn errors of metabolism.

    abstract：:Most inborn errors of metabolism (IEMs) are associated with potential for injury to the developing central nervous system resulting in chronic encephalopathy, though the etiopathophysiology of neurological injury have not been fully established in many disorders. Shared mechanisms can be envisioned such as oxidative i...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2011.06.020

    authors： Prust MJ,Gropman AL,Hauser N

    更新日期：2011-11-01 00:00:00

  • Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

    abstract：OBJECTIVE:To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency. METHODS:In this observational stud...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.ymgme.2012.09.006

    authors： van Karnebeek CD,Hartmann H,Jaggumantri S,Bok LA,Cheng B,Connolly M,Coughlin CR 2nd,Das AM,Gospe SM Jr,Jakobs C,van der Lee JH,Mercimek-Mahmutoglu S,Meyer U,Struys E,Sinclair G,Van Hove J,Collet JP,Plecko BR,Stockler

    更新日期：2012-11-01 00:00:00

  • Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

    abstract：:We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junc...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2001.3222

    authors： Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

    更新日期：2001-11-01 00:00:00

  • Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

    abstract：:Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tande...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.12.010

    authors： Kubaski F,Suzuki Y,Orii K,Giugliani R,Church HJ,Mason RW,Dũng VC,Ngoc CT,Yamaguchi S,Kobayashi H,Girisha KM,Fukao T,Orii T,Tomatsu S

    更新日期：2017-03-01 00:00:00

  • Psychosine, a marker of Krabbe phenotype and treatment effect.

    abstract：:Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.05.015

    authors： Escolar ML,Kiely BT,Shawgo E,Hong X,Gelb MH,Orsini JJ,Matern D,Poe MD

    更新日期：2017-07-01 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

  • Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: a meta-analysis.

    abstract：BACKGROUND:A common follicle-stimulating hormone (FSH) receptor (or FSHR) polymorphism Ser680Asn (rs6166) was found to be associated with altered ovarian response in women undergoing in-vitro fertilization. To further investigate such an association, a meta-analysis was conducted. METHODS:A PubMed literature search wa...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ymgme.2011.04.005

    authors： Yao Y,Ma CH,Tang HL,Hu YF

    更新日期：2011-08-01 00:00:00

  • Allelic variations in superoxide dismutase-1 (SOD1) gene and renal and cardiovascular morbidity and mortality in type 2 diabetic subjects.

    abstract：BACKGROUND:Oxidative stress is involved in the pathophysiology of renal and cardiovascular complications of diabetes. Superoxide dismutase (SOD) enzymes play a major role in detoxification of reactive oxygen species and protection against oxidative stress. Associations of SOD1 gene variants with diabetic nephropathy we...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.04.023

    authors： Neves AL,Mohammedi K,Emery N,Roussel R,Fumeron F,Marre M,Velho G

    更新日期：2012-07-01 00:00:00

  • Pilot study of mass screening for Wilson's disease in Korea.

    abstract：:Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism with copper accumulation in the liver as well as in the central nervous system. Treatment of WD includes oral chelating agents and diet and it is effective. However, once irreversible damage has occurred, the effect of treatment is diminishe...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(02)00026-4

    authors： Hahn SH,Lee SY,Jang YJ,Kim SN,Shin HC,Park SY,Han HS,Yu ES,Yoo HW,Lee JS,Chung CS,Lee SY,Lee DH

    更新日期：2002-06-01 00:00:00

  • Characterization of phytanic acid omega-hydroxylation in human liver microsomes.

    abstract：:Phytanic acid is a 3-methyl branched-chain fatty acid which originates from dietary sources. Since the 3-methyl group blocks regular beta-oxidation, it is broken down by peroxisomal alpha-oxidation. Adult Refsum disease patients accumulate phytanic acid as a result of an impairment in peroxisomal alpha-oxidation, caus...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2005.02.005

    authors： Komen JC,Duran M,Wanders RJ

    更新日期：2005-07-01 00:00:00

  • Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

    abstract：BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.03.006

    authors： Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

    更新日期：2015-05-01 00:00:00

  • Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

    abstract：:Glycogen storage disease type I (GSD I) is a metabolic disorder resulting from defects in the glucose-6-phosphatase system. Approximately 75% of adolescent and adult patients develop hepatocellular adenomas, which can lead to considerable morbidity and mortality. The pathogenesis of adenomas is unclear and the risk of...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.134

    authors： Di Rocco M,Calevo MG,Taro' M,Melis D,Allegri AE,Parenti G

    更新日期：2008-04-01 00:00:00

  • Clinical research for rare disease: opportunities, challenges, and solutions.

    abstract：:Over 7000 rare diseases, each <200,000 US residents, affect nearly 30 million people in the United States. Furthermore, for the 10% of people with a rare disease and for their families, these disorders no longer seem rare. Molecular genetics have characterized the cause of many rare diseases and provide unprecedented ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.10.003

    authors： Griggs RC,Batshaw M,Dunkle M,Gopal-Srivastava R,Kaye E,Krischer J,Nguyen T,Paulus K,Merkel PA,Rare Diseases Clinical Research Network.

    更新日期：2009-01-01 00:00:00

  • Histochemical localization of palmitoyl protein thioesterase-1 activity.

    abstract：:Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1, EC 3.1.2.22), resulting in intracellular accumulat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.11.004

    authors： Dearborn JT,Ramachandran S,Shyng C,Lu JY,Thornton J,Hofmann SL,Sands MS

    更新日期：2016-02-01 00:00:00

  • Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

    abstract：:The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross-reacting material in serum with antibody to purified normal biotinid...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2706

    authors： Pomponio RJ,Yamaguchi A,Arashima S,Hymes J,Wolf B

    更新日期：1998-06-01 00:00:00

  • Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

    abstract：BACKGROUND:Propionic acidemia (PA) is an organic aciduria caused by inherited deficiency of propionyl-CoA carboxylase. Left ventricular dysfunction and QT prolongation may lead to life-threatening complications. Systematic analyses of cardiac phenotypes, in particular effects of specific cardiac therapies, are scarce. ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2020.02.004

    authors： Kovacevic A,Garbade SF,Hoffmann GF,Gorenflo M,Kölker S,Staufner C

    更新日期：2020-05-01 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

  • A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

    abstract：:Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities duri...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2010.06.016

    authors： Dwianingsih EK,Takeshima Y,Itoh K,Yamauchi Y,Awano H,Malueka RG,Nishida A,Ota M,Yagi M,Matsuo M

    更新日期：2010-10-01 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