Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

abstract：:Whole-exome sequencing and whole-genome sequencing are gradually entering into the clinical arena. Drops in sequencing prices have led some to suggest that these analyses could be extended to the screening of whole populations or subsets thereof. Herein, we argue that this optimism is presently still unfounded. While ...

journal_title：Human mutation

authors： Beckmann JS

更新日期：2015-03-01 00:00:00

abstract：:Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populations. No data exist o...

journal_title：Human mutation

authors： Hadjisavvas A,Charalambous E,Adamou A,Christodoulou CG,Kyriacou K

更新日期：2003-02-01 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：:SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a pati...

journal_title：Human mutation

authors： Zaharieva IT,Sarkozy A,Munot P,Manzur A,O'Grady G,Rendu J,Malfatti E,Amthor H,Servais L,Urtizberea JA,Neto OA,Zanoteli E,Donkervoort S,Taylor J,Dixon J,Poke G,Foley AR,Holmes C,Williams G,Holder M,Yum S,Medne L

更新日期：2018-12-01 00:00:00

abstract：:Mutations in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and modes of inheritance and in asymptomatic carriers. This raises challenges in evaluating the pathogenicity of SCN1A mutations. We systematically reviewed all SCN1A mutations and established a database containing in...

journal_title：Human mutation

authors： Meng H,Xu HQ,Yu L,Lin GW,He N,Su T,Shi YW,Li B,Wang J,Liu XR,Tang B,Long YS,Yi YH,Liao WP

更新日期：2015-06-01 00:00:00

abstract：:Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to severe (e.g., complete gonadal dysgenesis). The molecular mechanism underlying this spectrum is un...

journal_title：Human mutation

authors： Sreenivasan R,Ludbrook L,Fisher B,Declosmenil F,Knower KC,Croft B,Bird AD,Ryan J,Bashamboo A,Sinclair AH,Koopman P,McElreavey K,Poulat F,Harley VR

更新日期：2018-12-01 00:00:00

abstract：:The current study aimed to identify new breast and/or ovarian cancer predisposition genes. For that, whole-exome sequencing (WES) was performed in the germline DNA of 52 non-BRCA1/BRCA2/TP53 mutation carrier women at high-risk for hereditary breast and ovarian cancer (HBOC). All variants were classified using informat...

journal_title：Human mutation

authors： Felicio PS,Grasel RS,Campacci N,de Paula AE,Galvão HCR,Torrezan GT,Sabato CS,Fernandes GC,Souza CP,Michelli RD,Andrade CE,Barros BDF,Matsushita MM,Revil T,Ragoussis J,Couch FJ,Hart SN,Reis RM,Melendez ME,Tonin PN,

更新日期：2020-12-16 00:00:00

abstract：:Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an inability to catabolize glycosaminoglycans. MPS III (or Sanfilippo syndrome) is an autosomal recessive disease caused by a failure to degrade heparan sulphate. There are four subtypes of MPS III, each categorized by a defi...

journal_title：Human mutation

authors： Fedele AO,Filocamo M,Di Rocco M,Sersale G,Lübke T,di Natale P,Cosma MP,Ballabio A

更新日期：2007-05-01 00:00:00

abstract：:Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. The affected residue falls within the DNA-binding domain of the NR5A1 protein, however the exact mechanism by which i...

journal_title：Human mutation

authors： Knarston IM,Robevska G,van den Bergen JA,Eggers S,Croft B,Yates J,Hersmus R,Looijenga LHJ,Cameron FJ,Monhike K,Ayers KL,Sinclair AH

更新日期：2019-02-01 00:00:00

abstract：:Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described. We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expanded the assay to char...

journal_title：Human mutation

authors： Rosenberg EH,Martínez Muñoz C,Betsalel OT,van Dooren SJ,Fernandez M,Jakobs C,deGrauw TJ,Kleefstra T,Schwartz CE,Salomons GS

更新日期：2007-09-01 00:00:00

abstract：:Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-generation sequencin...

journal_title：Human mutation

authors： Sikkema-Raddatz B,Johansson LF,de Boer EN,Almomani R,Boven LG,van den Berg MP,van Spaendonck-Zwarts KY,van Tintelen JP,Sijmons RH,Jongbloed JD,Sinke RJ

更新日期：2013-07-01 00:00:00

abstract：:Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of sev...

journal_title：Human mutation

authors： Hijazi H,Coelho FS,Gonzaga-Jauregui C,Bernardini L,Mar SS,Manning MA,Hanson-Kahn A,Naidu S,Srivastava S,Lee JA,Jones JR,Friez MJ,Alberico T,Torres B,Fang P,Cheung SW,Song X,Davis-Williams A,Jornlin C,Wight PA,Paty

更新日期：2020-01-01 00:00:00

abstract：:X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It mainly involves the nervous system white matter, adrenal cortex and testes. Several distinct clinical phenotypes are known. The principal biochemical abnormality is the accumulation of saturated very-long-chain fatty acids (VLCFAs : > C...

journal_title：Human mutation

authors： Lachtermacher MB,Seuánez HN,Moser AB,Moser HW,Smith KD

更新日期：2000-01-01 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：:Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations withi...

journal_title：Human mutation

authors： Pattison S,Pankarican M,Rupar CA,Graham FL,Igdoura SA

更新日期：2004-01-01 00:00:00

abstract：:Previous evidence indicates that mutations in the GALNT12 gene might cause a fraction of the unexplained familial colorectal cancer (CRC) cases: GALNT12 is located in 9q22-33, in close proximity to a CRC linkage peak; and germline missense variants that reduce the enzymatic activity of the protein have been identified...

journal_title：Human mutation

authors： Seguí N,Pineda M,Navarro M,Lázaro C,Brunet J,Infante M,Durán M,Soto JL,Blanco I,Capellá G,Valle L

更新日期：2014-01-01 00:00:00

abstract：:Autosomal-recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well-characterized cohort of...

journal_title：Human mutation

authors： Audo I,Sahel JA,Mohand-Saïd S,Lancelot ME,Antonio A,Moskova-Doumanova V,Nandrot EF,Doumanov J,Barragan I,Antinolo G,Bhattacharya SS,Zeitz C

更新日期：2010-05-01 00:00:00

abstract：:Genomic variations with no apparent effect ("neutral polymorphisms") may have a significant effect on splicing. The effect of this type of mutation is difficult to spot, unless a functional assay is undertaken. In our study, DNA sequencing of a patient with clinically defined neurofibromatosis type 1 (NF1) showed only...

journal_title：Human mutation

authors： Raponi M,Upadhyaya M,Baralle D

更新日期：2006-03-01 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：:Recent advances in fluorescent dyes, methods, instruments and software for DNA melting analysis have created versatile new tools for variant scanning and genotyping. High resolution melting analysis (HRM or HRMA) is faster, simpler, and less expensive than alternative approaches requiring separations or labeled probes...

journal_title：Human mutation

authors： Wittwer CT

更新日期：2009-06-01 00:00:00

abstract：:The evolutionary and biomedical importance of differential mRNA splicing is well established. Numerous studies have assessed patterns of differential splicing in different genes and correlated these patterns to the genotypes for adjacent single-nucleotide polymorphisms (SNPs). Here, we have chosen a reverse approach a...

journal_title：Human mutation

authors： ElSharawy A,Hundrieser B,Brosch M,Wittig M,Huse K,Platzer M,Becker A,Simon M,Rosenstiel P,Schreiber S,Krawczak M,Hampe J

更新日期：2009-04-01 00:00:00

abstract：:Mutation detection methods based upon chemical or enzymatic cleavage of DNA offer excellent detection efficiencies coupled with high throughput and low unit cost. We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutation...

journal_title：Human mutation

authors： O'Donnell KA,Tighe O,O'Neill C,Naughten E,Mayne PD,McCarthy TV,Vaughan P,Croke DT

更新日期：2001-05-01 00:00:00

abstract：:Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the c.365G > A (p.R122...

journal_title：Human mutation

authors： Teich N,Rosendahl J,Tóth M,Mössner J,Sahin-Tóth M

更新日期：2006-08-01 00:00:00

abstract：:We have developed a novel one-step pool screening PCR procedure which is based on the principles of amplification refractory mutation system (ARMS) and competitive oligonuleotide priming (COP) PCR. In addition to the usual primers, this approach uses two allele-specific competitive oligonucleotides, one of which is 3'...

journal_title：Human mutation

authors： Orou A,Fechner B,Utermann G,Menzel HJ

更新日期：1995-01-01 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：:Increasing use of next-generation sequencing technologies in clinical diagnostics allows large-scale discovery of genetic variants, but also results in frequent identification of variants of unknown significance (VUSs). Their classification into disease-causing and neutral variants is often hampered by the absence of ...

journal_title：Human mutation

authors： Wu H,Vonk KKD,van der Maarel SM,Santen GWE,Daxinger L

更新日期：2019-08-01 00:00:00

abstract：:Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families...

journal_title：Human mutation

authors： Frosk P,Greenberg CR,Tennese AA,Lamont R,Nylen E,Hirst C,Frappier D,Roslin NM,Zaik M,Bushby K,Straub V,Zatz M,de Paula F,Morgan K,Fujiwara TM,Wrogemann K

更新日期：2005-01-01 00:00:00

abstract：:Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskele...

journal_title：Human mutation

authors： Böhm J,Biancalana V,Dechene ET,Bitoun M,Pierson CR,Schaefer E,Karasoy H,Dempsey MA,Klein F,Dondaine N,Kretz C,Haumesser N,Poirson C,Toussaint A,Greenleaf RS,Barger MA,Mahoney LJ,Kang PB,Zanoteli E,Vissing J,Wittin

更新日期：2012-06-01 00:00:00

abstract：:A strategy is described that exploits allele-specific amplification (ASA-PCR) and electrochemiluminescence (ECL) detection technology to rapidly and cheaply screen large numbers of DNAs arranged in pooled matrices in order to identify individual nucleotide sequence variants. To demonstrate this strategy, a large genom...

journal_title：Human mutation

authors： Bergen A,Wang CY,Nakhai B,Goldman D

更新日期：1996-01-01 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