Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.

abstract：:Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43-year-old proband, his father and two sons were heterozygous for a c.1715G>C p.(Arg572Pro) variant in CAPN3. ...

journal_title：Human mutation

authors： Vissing J,Dahlqvist JR,Roudaut C,Poupiot J,Richard I,Duno M,Krag T

更新日期：2020-09-01 00:00:00

abstract：:Defective mitochondrial proteins are emerging as major contributors to human disease. Nicotinamide nucleotide transhydrogenase (NNT), a widely expressed mitochondrial protein, has a crucial role in the defence against oxidative stress. NNT variations have recently been reported in patients with familial glucocorticoid...

journal_title：Human mutation

authors： Metherell LA,Guerra-Assunção JA,Sternberg MJ,David A

更新日期：2016-10-01 00:00:00

abstract：:The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the ...

journal_title：Human mutation

authors： Niesler B,Fischer C,Rappold GA

更新日期：2002-11-01 00:00:00

abstract：:The genetic polymorphism of thiopurine S-methyltransferase (TPMT) has had a highly significant clinical impact due to its association with individual variation in the toxicity and therapeutic efficiency of thiopurine drugs, which are pharmaceutical agents widely used in the treatment of several kinds of diseases. Unti...

journal_title：Human mutation

authors： Alves S,Prata MJ,Ferreira F,Amorim A

更新日期：2000-01-01 00:00:00

abstract：:Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering ...

journal_title：Human mutation

authors： Cvačková Z,Matějů D,Staněk D

更新日期：2014-03-01 00:00:00

abstract：:Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which father and son had bilat...

journal_title：Human mutation

authors： Mangino M,Flex E,Digilio MC,Giannotti A,Dallapiccola B

更新日期：2002-03-01 00:00:00

abstract：:Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). We screened CN (n = 395) or CyN (n = 92) patients for ELANE mutations and investigated the impact of mutations on mRNA expression, protein expression, and activity. W...

journal_title：Human mutation

authors： Germeshausen M,Deerberg S,Peter Y,Reimer C,Kratz CP,Ballmaier M

更新日期：2013-06-01 00:00:00

abstract：:Reliable identification of cancer-related mutations in TP53 is often problematic, as these mutations can be randomly distributed throughout numerous codons and their relative abundance in clinical samples can fall below the sensitivity limits of conventional sequencing. To ensure the highest sensitivity in mutation de...

journal_title：Human mutation

authors： Li J,Milbury CA,Li C,Makrigiorgos GM

更新日期：2009-11-01 00:00:00

abstract：:The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, negative for point mutations, can be expected to carry large rearrangements in one of these two genes. We developed a novel diagnostic genetic test for the physical ...

journal_title：Human mutation

authors： Cheeseman K,Rouleau E,Vannier A,Thomas A,Briaux A,Lefol C,Walrafen P,Bensimon A,Lidereau R,Conseiller E,Ceppi M

更新日期：2012-06-01 00:00:00

abstract：:The 11th International Symposium on Mutations in the Genome was held on 6-10 June, 2011, in Santorini, Greece. Meeting participants described novel detection technologies, rapid advances in whole genome and whole-exome sequencing, but also highlighted the urgent need for the development of sequence variation databases...

journal_title：Human mutation

authors： Stavrou EF,Goriely A

更新日期：2012-10-01 00:00:00

abstract：:Familial cerebral cavernous malformation (FCCM) is an autosomal dominant vascular disorder caused by heterozygous deleterious variants in KRIT1, CCM2 or PDCD10. In a previous study, we presented the clinical and molecular findings in 140 FCCM individuals. In the present work, we report supporting information on (a) ap...

journal_title：Human mutation

authors： Fusco C,Copetti M,Mazza T,Amoruso L,Mastroianno S,Nardella G,Guarnieri V,Micale L,D'Agruma L,Castori M

更新日期：2019-11-01 00:00:00

abstract：:A high proportion of patients with late onset forms of Krabbe disease is observed in a region north of Catania in Sicily. Molecular analysis in five families from this region shows that this condition is mainly due to a not previously described p.Gly41Ser substitution in the GALC gene that abolishes catalytic activity...

journal_title：Human mutation

authors： Lissens W,Arena A,Seneca S,Rafi M,Sorge G,Liebaers I,Wenger D,Fiumara A

更新日期：2007-07-01 00:00:00

abstract：:M6P/IGF2R encodes a multifunctional protein involved in lysosomal enzyme trafficking, fetal organogenesis, tumor suppression, and cytotoxic T cell-induced apoptosis. M6P/IGF2R is imprinted and expressed only from the maternally inherited allele in marsupials and rodents. In contrast, humans were initially reported to ...

journal_title：Human mutation

authors： Killian JK,Oka Y,Jang HS,Fu X,Waterland RA,Sohda T,Sakaguchi S,Jirtle RL

更新日期：2001-01-01 00:00:00

abstract：:Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These diseases show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal of performing clinical and genetic mapping of the majority of I...

journal_title：Human mutation

authors： Sharon D,Ben-Yosef T,Goldenberg-Cohen N,Pras E,Gradstein L,Soudry S,Mezer E,Zur D,Abbasi AH,Zeitz C,Cremers FPM,Khan MI,Levy J,Rotenstreich Y,Birk OS,Ehrenberg M,Leibu R,Newman H,Shomron N,Banin E,Perlman I

更新日期：2020-01-01 00:00:00

abstract：:Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated ...

journal_title：Human mutation

authors： Azzi S,Steunou V,Rousseau A,Rossignol S,Thibaud N,Danton F,Le Jule M,Gicquel C,Le Bouc Y,Netchine I

更新日期：2011-02-01 00:00:00

abstract：:Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutations have been identified in seven patients. We investigate...

journal_title：Human mutation

authors： Item CB,Mercimek-Mahmutoglu S,Battini R,Edlinger-Horvat C,Stromberger C,Bodamer O,Mühl A,Vilaseca MA,Korall H,Stöckler-Ipsiroglu S

更新日期：2004-05-01 00:00:00

abstract：:ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues. Mutati...

journal_title：Human mutation

authors： Cooper PE,Reutter H,Woelfle J,Engels H,Grange DK,van Haaften G,van Bon BW,Hoischen A,Nichols CG

更新日期：2014-07-01 00:00:00

abstract：:Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals w...

journal_title：Human mutation

authors： Crimi M,Sciacco M,Galbiati S,Bordoni A,Malferrari G,Del Bo R,Biunno I,Bresolin N,Comi GP

更新日期：2002-11-01 00:00:00

abstract：:Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central rol...

journal_title：Human mutation

authors： Katzov H,Chalmers K,Palmgren J,Andreasen N,Johansson B,Cairns NJ,Gatz M,Wilcock GK,Love S,Pedersen NL,Brookes AJ,Blennow K,Kehoe PG,Prince JA

更新日期：2004-04-01 00:00:00

abstract：:Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new,...

journal_title：Human mutation

authors： Su YN,Hung CC,Li H,Lee CN,Cheng WF,Tsao PN,Chang MC,Yu CL,Hsieh WS,Lin WL,Hsu SM

更新日期：2005-05-01 00:00:00

abstract：:β-Galactosidase deficiency is a group of lysosomal lipid storage disorders with an autosomal recessive trait. It causes two clinically different diseases, G(M1) -gangliosidosis and Morquio B disease. It is caused by heterogeneous mutations in the GLB1 gene coding for the lysosomal acid β-galactosidase. We have previou...

journal_title：Human mutation

authors： Higaki K,Li L,Bahrudin U,Okuzawa S,Takamuram A,Yamamoto K,Adachi K,Paraguison RC,Takai T,Ikehata H,Tominaga L,Hisatome I,Iida M,Ogawa S,Matsuda J,Ninomiya H,Sakakibara Y,Ohno K,Suzuki Y,Nanba E

更新日期：2011-07-01 00:00:00

abstract：:At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac potassium channel KVLQT...

journal_title：Human mutation

authors： Saarinen K,Swan H,Kainulainen K,Toivonen L,Viitasalo M,Kontula K

更新日期：1998-01-01 00:00:00

abstract：:Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is c...

journal_title：Human mutation

authors： Denora PS,Schlesinger D,Casali C,Kok F,Tessa A,Boukhris A,Azzedine H,Dotti MT,Bruno C,Truchetto J,Biancheri R,Fedirko E,Di Rocco M,Bueno C,Malandrini A,Battini R,Sickl E,de Leva MF,Boespflug-Tanguy O,Silvestri G,S

更新日期：2009-03-01 00:00:00

abstract：:To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR) gene. Seven probands, 4 heterozygotes, 2 compound heterozygotes, and 1 homozygo...

journal_title：Human mutation

authors： Loux N,Saint-Jore B,Collod G,Dairou F,Benlian P,Truffert J,Dastugue B,Douste-Blazy P,de Gennes JL,Junien C

更新日期：1992-01-01 00:00:00

abstract：:Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical examination showed thre...

journal_title：Human mutation

authors： Gu F,Luo W,Li X,Wang Z,Lu S,Zhang M,Zhao B,Zhu S,Feng S,Yan YB,Huang S,Ma X

更新日期：2008-05-01 00:00:00

abstract：:The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significant...

journal_title：Human mutation

authors： Menzel HJ,Dieplinger H,Sandholzer C,Karádi I,Utermann G,Császár A

更新日期：1995-01-01 00:00:00

abstract：:Most genomic alterations are tolerated while only a minor fraction disrupts molecular function sufficiently to drive disease. Protein kinases play a central biological function and the functional consequences of their variants are abundantly characterized. However, this heterogeneous information is often scattered acr...

journal_title：Human mutation

authors： Vazquez M,Pons T,Brunak S,Valencia A,Izarzugaza JM

更新日期：2016-01-01 00:00:00

abstract：:The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author, Nuria C. Bramswig, was left off of the title page of this article at the time of submission. This erratum serves to correct this error by including Dr. Bramswig ...

journal_title：Human mutation

authors： Sukalo M,Tilsen F,Kayserili H,Müller D,Tüysüz B,Ruddy DM,Wakeling E,Ørstavik KH,Bramswig NC,Snape KM,Trembath R,De Smedt M,van der Aa N,Skalej M,Mundlos S,Wuyts W,Southgate L,Zenker M

更新日期：2015-11-01 00:00:00

abstract：:The joint Open PHACTS/GEN2PHEN workshop on "Solving Bottlenecks in Data Sharing in the Life Sciences" was held in Volendam, the Netherlands, on September 19 and 20, 2011, and was attended by representatives from academia, industry, publishing, and funding agencies. The aim of the workshop was to explore the issues tha...

journal_title：Human mutation

authors： Dalgleish R,Molero E,Kidd R,Jansen M,Past D,Robl A,Mons B,Diaz C,Mons A,Brookes AJ

更新日期：2012-10-01 00:00:00

abstract：:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and...

journal_title：Human mutation

authors： Bogdanova N,Lemcke B,Markoff A,Pollmann H,Dworniczak B,Eigel A,Horst J

更新日期：2001-12-01 00:00:00