Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

abstract：:In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion. The two other siblings, apparently healthy at 12(1/2) and 15 years, respectively, and their ...

journal_title：Human mutation

authors： Berger J,Gmach M,Mayr U,Molzer B,Bernheimer H

更新日期：1999-01-01 00:00:00

abstract：:The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset among members of thre...

journal_title：Human mutation

authors： Olsson C,Zethelius B,Lagerström-Fermér M,Asplund J,Berne C,Landegren U

更新日期：1998-01-01 00:00:00

abstract：:In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS. Mutations were not detected in the coding region of the CDKN1C gene in any individual with BWS. However in two patients, two G/A base substitutions at adjace...

journal_title：Human mutation

authors： Algar E,Brickell S,Deeble G,Amor D,Smith P

更新日期：2000-01-01 00:00:00

abstract：:Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome arch...

journal_title：Human mutation

authors： Kovac MB,Kovacova M,Bachraty H,Bachrata K,Piscuoglio S,Hutter P,Ilencikova D,Bartosova Z,Tomlinson I,Roethlisberger B,Heinimann K

更新日期：2015-02-01 00:00:00

abstract：:Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. HLCS is an enzyme that catalyzes biotin incorporation into carboxylases and histones. Since the first report of the cDNA sequence, 30 mutations in the HLCS gene have been reported. Mutations occur throughout the entire coding region excep...

journal_title：Human mutation

authors： Suzuki Y,Yang X,Aoki Y,Kure S,Matsubara Y

更新日期：2005-10-01 00:00:00

abstract：:Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japa...

journal_title：Human mutation

authors： Gao HZ,Kobayashi K,Tabata A,Tsuge H,Iijima M,Yasuda T,Kalkanoglu HS,Dursun A,Tokatli A,Coskun T,Trefz FK,Skladal D,Mandel H,Seidel J,Kodama S,Shirane S,Ichida T,Makino S,Yoshino M,Kang JH,Mizuguchi M,Barshop BA

更新日期：2003-07-01 00:00:00

abstract：:Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ran...

journal_title：Human mutation

authors： Tekin M,Duman T,Boğoçlu G,Incesulu A,Comak E,Ilhan I,Akar N

更新日期：2003-05-01 00:00:00

abstract：:GRB-associated binding protein 2 (GAB2) was recently reported to be a modifier of late-onset Alzheimer dementia (AD) risk in carriers of the APOE epsilon4 allele in a genome-wide association analysis. We aimed to investigate this association in a well-characterized Belgian late-onset AD patient/control group: 528 Belg...

journal_title：Human mutation

authors： Sleegers K,Bettens K,Brouwers N,Engelborghs S,van Miegroet H,De Deyn PP,Van Broeckhoven C

更新日期：2009-02-01 00:00:00

abstract：:We have developed an assay for allele-specific determination of low-density lipoprotein receptor (LDLR) mRNAs. Transcript levels are measured by reverse transcription (RT), PCR, and electrophoresis on an automatic DNA sequencer using fluorescence-labeled primers and direct quantitation of the allele-specific RT-PCR pr...

journal_title：Human mutation

authors： Jensen LG,Jensen HK,Heath F,Eiberg H,Kjeldsen M,Faergeman O,Kølvraa S,Bolund L,Gregersen N

更新日期：1996-01-01 00:00:00

abstract：:Genetic testing for mutations in high-risk cancer susceptibility genes often reveals missense substitutions that are not easily classified as pathogenic or neutral. Among the methods that can help in their classification are computational analyses. Predictions of pathogenic vs. neutral, or the probability that a varia...

journal_title：Human mutation

authors： Tavtigian SV,Greenblatt MS,Lesueur F,Byrnes GB,IARC Unclassified Genetic Variants Working Group.

更新日期：2008-11-01 00:00:00

abstract：:Although hamartomatous or hyperplastic polyps are rarely accompanied by adenomatous or carcinomatous foci, the role of APC (MIM# 175100) mutations in these polyps is not clear. The neoplastic potential of these polyps was assessed with regard to somatic mutation of the first 14 exons of APC. DNA from 14 hamartomatous ...

journal_title：Human mutation

authors： Kim JC,Roh SA,Kim HC,Yu CS,Lee DH,Ahn BY,Kim KM,Yang SK,Kang GH,Beck NE,Bodmer WF

更新日期：1999-10-01 00:00:00

abstract：:Insertion of endogenous retrotransposon sequences accounts for approximately 0.2% of disease causing mutations. These insertions are mediated by the reverse transcriptase and endonuclease activity of long interspersed nucleotide (LINE-1) elements. The factors that control the target site selection in insertional mutag...

journal_title：Human mutation

authors： Conley ME,Partain JD,Norland SM,Shurtleff SA,Kazazian HH Jr

更新日期：2005-03-01 00:00:00

abstract：:During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3-gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which...

journal_title：Human mutation

authors： Notarangelo LD,Mella P,Jones A,de Saint Basile G,Savoldi G,Cranston T,Vihinen M,Schumacher RF

更新日期：2001-10-01 00:00:00

abstract：:MicroRNAs (miRNAs) are a class of nonprotein coding genes with a growing importance in regulatory mechanisms of gene expression related to brain function and plasticity. Considering the relative lack of success of the analysis of variations in candidate protein coding genes and of genome-wide association studies to id...

journal_title：Human mutation

authors： Forero DA,van der Ven K,Callaerts P,Del-Favero J

更新日期：2010-11-01 00:00:00

abstract：:Here we present a computational model, Score of Unified Regulatory Features (SURF), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect of variants on reporter expression levels. It achieved the top performance in ...

journal_title：Human mutation

authors： Dong S,Boyle AP

更新日期：2019-09-01 00:00:00

abstract：:Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. Various mutations have been identified in the RPS19 gene, but no investigations regarding the effect of these a...

journal_title：Human mutation

authors： Chatr-Aryamontri A,Angelini M,Garelli E,Tchernia G,Ramenghi U,Dianzani I,Loreni F

更新日期：2004-12-01 00:00:00

abstract：:Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and mol...

journal_title：Human mutation

authors： Zhang XJ,He PP,Li M,He CD,Yan KL,Cui Y,Yang S,Zhang KY,Gao M,Chen JJ,Li CR,Jin L,Chen HD,Xu SJ,Huang W

更新日期：2004-06-01 00:00:00

abstract：:Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excretion of heparan sulfate. Considerable variation in the o...

journal_title：Human mutation

authors： Muschol N,Storch S,Ballhausen D,Beesley C,Westermann JC,Gal A,Ullrich K,Hopwood JJ,Winchester B,Braulke T

更新日期：2004-06-01 00:00:00

abstract：:Generalized glucocorticoid resistance is associated with glucocorticoid receptor (GR; NR3C1) mutations. Three novel heterozygous missense NR3C1 mutations (R477S, Y478C, and L672P) were identified in patients presenting with adrenal incidentalomas, glucocorticoid excess without Cushing syndrome. Dexamethasone (DXM) bin...

journal_title：Human mutation

authors： Vitellius G,Fagart J,Delemer B,Amazit L,Ramos N,Bouligand J,Le Billan F,Castinetti F,Guiochon-Mantel A,Trabado S,Lombès M

更新日期：2016-08-01 00:00:00

abstract：:Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles...

journal_title：Human mutation

authors： Giuliano F,Bannwarth S,Monnot S,Cano A,Chabrol B,Vialettes B,Delobel B,Paquis-Flucklinger V,French Group of WS.

更新日期：2005-01-01 00:00:00

abstract：:Since the first report by our group in 1999, more than 20 unrelated biallelic mutations in DNA mismatch repair genes (MMR) have been identified. In the present report, we describe two novel cases: one carrying compound heterozygous mutations in the MSH6 gene; and the other, compound heterozygous mutations in the PMS2 ...

journal_title：Human mutation

authors： Auclair J,Leroux D,Desseigne F,Lasset C,Saurin JC,Joly MO,Pinson S,Xu XL,Montmain G,Ruano E,Navarro C,Puisieux A,Wang Q

更新日期：2007-11-01 00:00:00

abstract：:The roles and characteristics of postzygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASDs) remain unclear. In this study of the whole exomes of 2,361 families in the Simons Simplex Collection, we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable par...

journal_title：Human mutation

authors： Dou Y,Yang X,Li Z,Wang S,Zhang Z,Ye AY,Yan L,Yang C,Wu Q,Li J,Zhao B,Huang AY,Wei L

更新日期：2017-08-01 00:00:00

abstract：:Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from...

journal_title：Human mutation

authors： Callewaert BL,Loeys BL,Ficcadenti A,Vermeer S,Landgren M,Kroes HY,Yaron Y,Pope M,Foulds N,Boute O,Galán F,Kingston H,Van der Aa N,Salcedo I,Swinkels ME,Wallgren-Pettersson C,Gabrielli O,De Backer J,Coucke PJ,De Paep

更新日期：2009-03-01 00:00:00

abstract：:The p53 tumor suppressor gene has proven to be one of the genes most often mutated in human cancers. It involves mainly point mutations leading to amino acid substitutions in the central region of the protein which impairs normal functions. Analysis of the mutational events that target the p53 gene has revealed eviden...

journal_title：Human mutation

authors： Soussi T,Dehouche K,Béroud C

更新日期：2000-01-01 00:00:00

abstract：:We describe ribo-polymerase chain reaction (PCR), a method for the preparation of chimeric RNA/DNA. The RNA/DNA chimeric nucleic acids are generated directly from genomic DNA starting templates with two locus-specific primers, three nucleotides in their deoxy form and the fourth in its ribo form, a DNA polymerase capa...

journal_title：Human mutation

authors： Mauger F,Bauer K,Semhoun J,Myers TW,Gelfand DH,Gut IG

更新日期：2012-06-01 00:00:00

abstract：:Isolated methylmalonic aciduria (MMA) is an autosomal-recessive disorder of propionate metabolism that is most commonly caused by mutations in the methylmalonyl-CoA mutase (MUT) gene (mut-type MMA). We investigated a cohort of 151 patients, classifying 114 patients as mut(0) and 32 as mut(-) (five not defined). As per...

journal_title：Human mutation

authors： Forny P,Schnellmann AS,Buerer C,Lutz S,Fowler B,Froese DS,Baumgartner MR

更新日期：2016-08-01 00:00:00

abstract：:We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described. HPRT Zaragoza II (...

journal_title：Human mutation

authors： Torres RJ,Mateos FA,Molano J,Gathoff BS,O'Neill JP,Gundel RM,Trombley L,Puig JG

更新日期：2000-04-01 00:00:00

abstract：:We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacterised PKU chromosome...

journal_title：Human mutation

authors： Kasnauskiene J,Giannattasio S,Lattanzio P,Cimbalistiene L,Kucinskas V

更新日期：2003-04-01 00:00:00

abstract：:Both the mutational status and the specific mutation of TP53 (p53) have been shown to impact both tumor prognosis and response to therapies. Molecular profiling of solid tumors is confounded by infiltrating wild-type cells, since normal DNA can interfere with detection of mutant sequences. Our objective was to identif...

journal_title：Human mutation

authors： Favis R,Huang J,Gerry NP,Culliford A,Paty P,Soussi T,Barany F

更新日期：2004-07-01 00:00:00

abstract：:Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and pr...

journal_title：Human mutation

authors： Has C,Castiglia D,del Rio M,Diez MG,Piccinni E,Kiritsi D,Kohlhase J,Itin P,Martin L,Fischer J,Zambruno G,Bruckner-Tuderman L

更新日期：2011-11-01 00:00:00