Recent advances in Dyggve-Melchior-Clausen syndrome.


:Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. Electron microscopy studies of both DMC chondrocytes and fibroblasts reveal an enlarged endoplasmic reticulum network and a large number of intracytoplasmic membranous vesicles, suggesting that DMC syndrome may be a storage disorder. Indeed, DMC phenotype is often compared to that of type IV mucopolysaccharidosis (Morquio disease), a lysosomal disorder due to either N-acetylgalactosamine-6-sulphatase or beta-galactosidase deficiency. To date, however, the lysosomal pathway appears normal in DMC patients and biochemical analyses failed to reveal any enzymatic deficiency or accumulated substrate. Linkage studies using homozygosity mapping have led to the localization of the disease-causing gene on chromosome 18q21.1. The gene was recently identified as a novel transcript (Dym) encoding a 669-amino acid product (Dymeclin) with no known domains or function. Sixteen different Dym mutations have now been described in 21 unrelated families with at least five founder effects in Morocco, Lebanon, and Guam Island. Smith-MacCort syndrome (SMC), a rare variant of DMC syndrome without mental retardation, was shown to be allelic of DMC syndrome and to result from mutations in Dym that would be less deleterious to the brain. The present review focuses on clinical, radiological, and cellular features and evolution of DMC/SMC syndromes and discusses them with regard to identified Dym mutations and possible roles of the Dym gene product.


Mol Genet Metab


Paupe V,Gilbert T,Le Merrer M,Munnich A,Cormier-Daire V,El Ghouzzi V




Has Abstract


2004-09-01 00:00:00














  • Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model.

    abstract::Fabry disease is a lysosomal storage disease caused by deficient activity of the α-Galactosidase A (α-Gal A) enzyme, which leads to abnormal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosome. Glycosphingolipids are known to be invariant Natural Killer T (iNKT) cell antigens. Sever...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Macedo MF,Quinta R,Pereira CS,Sa Miranda MC

    更新日期:2012-05-01 00:00:00

  • Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

    abstract:BACKGROUND:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations. In Japan, however, it was as late as 2000 when the first patient was found, and enzymatic and genetic evaluation...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Tajima G,Hara K,Tsumura M,Kagawa R,Okada S,Sakura N,Hata I,Shigematsu Y,Kobayashi M

    更新日期:2016-12-01 00:00:00

  • The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.

    abstract::The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Morimoto K,Lin S,Sakamoto K

    更新日期:2007-04-01 00:00:00

  • Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.

    abstract:UNLABELLED:The phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the "severe" phenotype, the "attenuated" phenotype does not present with behavioral or cognitive impairment; however, the presence of mild beha...

    journal_title:Molecular genetics and metabolism

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Yund B,Rudser K,Ahmed A,Kovac V,Nestrasil I,Raiman J,Mamak E,Harmatz P,Steiner R,Lau H,Vekaria P,Wozniak JR,Lim KO,Delaney K,Whitley C,Shapiro EG

    更新日期:2015-02-01 00:00:00

  • Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

    abstract::Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

    更新日期:2004-11-01 00:00:00

  • P53 and IGFBP-3: apoptosis and cancer protection.

    abstract::p53, perhaps the single most important human tumor suppressor, is commonly mutated in human cancers. Normally genotoxic stress and hypoxia activate p53, which, through DNA-specific transcription activation, transcriptional repression, and protein-protein interactions, triggers cell cycle arrest and apoptosis. One of t...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Grimberg A

    更新日期:2000-06-01 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


    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

  • Mitogen-activated protein kinase phosphatase-1 deficiency decreases atherosclerosis in apolipoprotein E null mice by reducing monocyte chemoattractant protein-1 levels.

    abstract:RATIONALE:We previously reported that mitogen-activated protein kinase phosphatase-1 (MKP-1) expression is necessary for oxidized phospholipids to induce monocyte chemoattractant protein-1 (MCP-1) secretion by human aortic endothelial cells. We also reported that inhibition of tyrosine phosphatases including MKP-1 amel...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Imaizumi S,Grijalva V,Priceman S,Wu L,Su F,Farias-Eisner R,Hama S,Navab M,Fogelman AM,Reddy ST

    更新日期:2010-09-01 00:00:00

  • Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

    abstract:BACKGROUND AND OBJECTIVES:Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these is...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Adams HR,Rose K,Augustine EF,Kwon JM,deBlieck EA,Marshall FJ,Vierhile A,Mink JW,Nance MA

    更新日期:2014-02-01 00:00:00

  • RNA-Seq analysis in an avian model of maternal phenylketonuria.

    abstract::Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Watson JN,Seagraves NJ

    更新日期:2019-01-01 00:00:00

  • Leber congenital amaurosis.

    abstract::Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Perrault I,Rozet JM,Gerber S,Ghazi I,Leowski C,Ducroq D,Souied E,Dufier JL,Munnich A,Kaplan J

    更新日期:1999-10-01 00:00:00

  • Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    abstract::Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

    更新日期:1998-09-01 00:00:00

  • A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.

    abstract::Maple syrup urine disease (MSUD) is a rare, autosomal-recessive disorder of branched-chain amino-acid metabolism. In the Philippines, many MSUD cases have been diagnosed clinically. Here, molecular analysis of the dihydrolipoyl transacylase (E2) gene was done in 13 unrelated families from the Philippines. A novel dele...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Silao CL,Padilla CD,Matsuo M

    更新日期:2004-02-01 00:00:00

  • DAX1 and its network partners: exploring complexity in development.

    abstract::DAX1 encoded by NR0B1, when mutated, is responsible for X-linked adrenal hypoplasia congenita (AHC). AHC is due to failure of the adrenal cortex to develop normally and is fatal if untreated. When duplicated, this gene is associated with an XY sex-reversed phenotype. DAX1 expression is present during development of th...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Clipsham R,McCabe ER

    更新日期:2003-09-01 00:00:00

  • ELMO1 variants and susceptibility to diabetic nephropathy in American Indians.

    abstract::Variants in the engulfment and cell motility 1 gene, ELMO1, have previously been associated with kidney disease attributed to type 2 diabetes. The Pima Indians of Arizona have high rates of diabetic nephropathy, which is strongly dependent on genetic determinants; thus, we sought to investigate the role of ELMO1 polym...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Hanson RL,Millis MP,Young NJ,Kobes S,Nelson RG,Knowler WC,DiStefano JK

    更新日期:2010-12-01 00:00:00

  • Investigation of Batten disease with the yeast Saccharomyces cerevisiae.

    abstract::The CLN3 gene, which encodes the protein whose absence is responsible for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995. The function of the protein, Cln3p, still remains elusive. We previously cloned the Saccharomyces cerevisiae homolog to the human CLN3 ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Pearce DA,Sherman F

    更新日期:1999-04-01 00:00:00

  • Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.

    abstract:BACKGROUND:Flow-injection MS/MS methods for elevated acylcarnitines are routinely performed in most newborn screening and biochemical genetics laboratories; however this technique cannot distinguish between isobaric compounds; therefore, chromatographic separation is required to quantitate isomers for differential diag...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Forni S,Fu X,Palmer SE,Sweetman L

    更新日期:2010-09-01 00:00:00

  • Molecular cloning of junctin from human and developing rabbit heart.

    abstract::Canine junctin is a 26-kDa transmembrane protein found in the sarcoplasmic reticulum (SR) membrane in cardiac and skeletal muscle. Junctin has recently been shown to bind directly to calsequestrin, the ryanodine receptor, and triadin. Junctin is thought to play a role in facilitating (and perhaps regulating) Ca(2+) re...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Wetzel GT,Ding S,Chen F

    更新日期:2000-03-01 00:00:00

  • Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

    abstract::Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial effects on health and in connection to many diseases. RSV improves the metabolism and the mit...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Dembic M,Andersen HS,Bastin J,Doktor TK,Corydon TJ,Sass JO,Lopes Costa A,Djouadi F,Andresen BS

    更新日期:2019-01-01 00:00:00

  • Folate-homocysteine interrelations: potential new markers of folate status.

    abstract::We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

    更新日期:1999-05-01 00:00:00

  • A large TAT deletion in a tyrosinaemia type II patient.

    abstract::A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at cod...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Legarda M,Wlodarczyk K,Lage S,Andrade F,Kim GJ,Bausch E,Scherer G,Aldamiz-Echevarria LJ

    更新日期:2011-11-01 00:00:00

  • Aortic distensibility in alkaptonuria.

    abstract:INTRODUCTION:Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibili...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Thimmapuram R,Bandettini WP,Shanbhag SM,Yu JH,O'Brien KJ,Gahl WA,Introne WJ,Chen MY

    更新日期:2020-08-01 00:00:00

  • A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.

    abstract::Phenylalanine hydroxylase (PAH) deficiency, colloquially known as phenylketonuria (PKU), is among the most common inborn errors of metabolism and in the past decade has become a target for the development of novel therapeutics such as gene therapy. PAH deficient mouse models have been key to new treatment development,...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Richards DY,Winn SR,Dudley S,Fedorov L,Rimann N,Thöny B,Harding CO

    更新日期:2020-11-01 00:00:00

  • Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

    abstract::The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metabolites are the hallmark of the classical form of the disease. Here, we r...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Brassier A,Ottolenghi C,Boutron A,Bertrand AM,Valmary-Degano S,Cervoni JP,Chrétien D,Arnoux JB,Hubert L,Rabier D,Lacaille F,de Keyzer Y,Di Martino V,de Lonlay P

    更新日期:2013-05-01 00:00:00

  • Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

    abstract::Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a membe...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Saheki T,Kobayashi K,Iijima M,Horiuchi M,Begum L,Jalil MA,Li MX,Lu YB,Ushikai M,Tabata A,Moriyama M,Hsiao KJ,Yang Y

    更新日期:2004-04-01 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


    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

  • The effects of hyperglycemia on adrenal cortex function and steroidogenesis in the zebrafish.

    abstract::Since the 1950s, scientists have attempted to characterize the relationship between diabetes mellitus (DM) and the hypothalamic-pituitary-adrenal (HPA) axis. Similar complications are seen in patients with diabetes and Cushing's syndrome, leading some to suggest that an underlying abnormality in the HPA axis may be re...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Powers JW,Mazilu JK,Lin S,McCabe ER

    更新日期:2010-12-01 00:00:00

  • Genetic variation of the ATP-binding cassette transporter A1 and susceptibility to coronary heart disease.

    abstract::ATP-binding cassette transporter A1 (ABCA1) is a member of a superfamily of membrane proteins that has attracted considerable attention as a candidate gene for coronary heart disease (CHD) based on its enzyme function as a key factor in regulating plasma HDL-C and apo A-I metabolism. It has been suggested that polymor...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,meta分析


    authors: Jiang Z,Zhou R,Xu C,Feng G,Zhou Y

    更新日期:2011-05-01 00:00:00

  • Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.

    abstract::Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Parle-McDermott A,McManus EJ,Mills JL,O'Leary VB,Pangilinan F,Cox C,Weiler A,Molloy AM,Conley M,Watson D,Scott JM,Brody LC,Kirke PN,Birth Defects Research Group.

    更新日期:2003-12-01 00:00:00

  • Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

    abstract::Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity. ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the ubiquitously expressed...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Peoc'h K,Nicolas G,Schmitt C,Mirmiran A,Daher R,Lefebvre T,Gouya L,Karim Z,Puy H

    更新日期:2019-11-01 00:00:00