Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

abstract：:Both myosin 7A (MYO7A) and calmodulin (CaM) are required for transduction and adaptation processes in inner ear hair cells. We identified a novel heterozygous missense mutation (c.2557C>T; p.R853C) in a family with autosomal dominant non-syndromic hearing loss that changes an evolutionarily invariant residue of the fi...

journal_title：Human mutation

authors： Bolz H,Bolz SS,Schade G,Kothe C,Mohrmann G,Hess M,Gal A

更新日期：2004-09-01 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：:Restriction endonuclease fingerprinting (REF), a hybrid modification of single-strand conformation polymorphism (SSCP) and restriction endonuclease digestion, has been used previously to detect mutations in 1- to 2-kb segments of DNA. This paper demonstrates that fragment resolution, and thus sensitivity of REF, can b...

journal_title：Human mutation

authors： Feng J,Buzin CH,Tang SH,Scaringe WA,Sommer SS

更新日期：1999-01-01 00:00:00

abstract：:Dyskerin (encoded by the DKC1 locus) is the pseudouridine synthase responsible for the modification of noncoding RNA. Dyskerin is also an obligate member of the telomerase enzyme, and participates in the biogenesis of telomerase. Genetic lesions at the DKC1 locus are associated with X-linked dyskeratosis congenita (X-...

journal_title：Human mutation

authors： Thumati NR,Zeng XL,Au HH,Jang CJ,Jan E,Wong JM

更新日期：2013-12-01 00:00:00

abstract：:Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the arOP patie...

journal_title：Human mutation

authors： Susani L,Pangrazio A,Sobacchi C,Taranta A,Mortier G,Savarirayan R,Villa A,Orchard P,Vezzoni P,Albertini A,Frattini A,Pagani F

更新日期：2004-09-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating point mutations are ...

journal_title：Human mutation

authors： Krone N,Braun A,Roscher AA,Schwarz HP

更新日期：1999-01-01 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：:We participated in the Critical Assessment of Genome Interpretation eQTL challenge to further test computational models of regulatory variant impact and their association with human disease. Our prediction model is based on a discriminative gapped-kmer SVM (gkm-SVM) trained on genome-wide chromatin accessibility data ...

journal_title：Human mutation

authors： Beer MA

更新日期：2017-09-01 00:00:00

abstract：:Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA). Kir7.1 controls the microenvironment between the photoreceptors and the retinal pigment epithelium (RPE) and also contributes to the function...

journal_title：Human mutation

authors： Pattnaik BR,Shahi PK,Marino MJ,Liu X,York N,Brar S,Chiang J,Pillers DA,Traboulsi EI

更新日期：2015-07-01 00:00:00

abstract：:Genes and proteins are known to have differences in their sensitivity to alterations. Despite numerous sequencing studies, proportions of harmful and harmless substitutions are not known for proteins and groups of proteins. To address this question, we predicted the outcome for all possible single amino acid substitut...

journal_title：Human mutation

authors： Schaafsma GCP,Vihinen M

更新日期：2017-07-01 00:00:00

abstract：:Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T and a new somatic ...

journal_title：Human mutation

authors： Ruiz-Ponte C,Vega A,Carracedo A,Barros F

更新日期：2001-10-01 00:00:00

abstract：:CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is currently offered by commercial laboratories. However, the current status of CACNA1H as a monogenic cause of epilepsy is controversial, highlighted by ClinGen's re...

journal_title：Human mutation

authors： Calhoun JD,Huffman AM,Bellinski I,Kinsley L,Bachman E,Gerard E,Kearney JA,Carvill GL

更新日期：2020-06-01 00:00:00

abstract：:Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern area of Spain (Valencian Community). We have screened the ...

journal_title：Human mutation

authors： García-García AB,Real JT,Puig O,Cebolla E,Marín-García P,Martínez Ferrandis JI,García-Sogo M,Civera M,Ascaso JF,Carmena R,Armengod ME,Chaves FJ

更新日期：2001-11-01 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：:Oculodentodigital dysplasia (ODDD) and Hallermann-Streiff syndrome (HSS) share several clinical characteristics. However, while ODDD is a dominantly inherited disorder due to mutations in the connexin 43 gene GJA1, the inheritance pattern of the HSS syndrome is still debated. Overlapping phenotypes have been described...

journal_title：Human mutation

authors： Pizzuti A,Flex E,Mingarelli R,Salpietro C,Zelante L,Dallapiccola B

更新日期：2004-03-01 00:00:00

abstract：:Genome sequencing identifies vast number of genetic variants. Predicting these variants' molecular and clinical effects is one of the preeminent challenges in human genetics. Accurate prediction of the impact of genetic variants improves our understanding of how genetic information is conveyed to molecular and cellula...

journal_title：Human mutation

authors： Hu Z,Yu C,Furutsuki M,Andreoletti G,Ly M,Hoskins R,Adhikari AN,Brenner SE

更新日期：2019-09-01 00:00:00

abstract：:We describe a scanning procedure for the detection of beta-globin gene mutations and the prenatal diagnosis of beta-thalassemias. The method is based on the combined use of PCR and denaturing gradient gel electrophoresis (DGGE) of six amplified fragments encompassing the whole beta-globin coding region and splice junc...

journal_title：Human mutation

authors： Ghanem N,Girodon E,Vidaud M,Martin J,Fanen P,Plassa F,Goossens M

更新日期：1992-01-01 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：:We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X and DXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2). The (TAAAA)n repeat of loci DXYS156 occurs within a hum...

journal_title：Human mutation

authors： Chen H,Lowther W,Avramopoulos D,Antonarakis SE

更新日期：1994-01-01 00:00:00

abstract：:Hereditary hemorrhagic telangiectasia type 1 (HHT1) is a vascular dysplasia caused by mutations in the endoglin (ENG) gene and associated with epistaxis, telangiectases, and a high incidence of pulmonary arteriovenous malformations. To efficiently detect deletions and insertions, we optimized a quantitative multiplex ...

journal_title：Human mutation

authors： Cymerman U,Vera S,Karabegovic A,Abdalla S,Letarte M

更新日期：2003-05-01 00:00:00

abstract：:Hereditary multiple exostoses is a dominantly inherited disease characterized by multiple benign osteochondromas. The affected individuals have an increased risk of developing sarcoma. A large Finnish family with hereditary multiple exostosis was analyzed to find the disease-causing mutation. Blood samples were obtain...

journal_title：Human mutation

authors： Wolf M,Hemminki A,Kivioja A,Sistonen P,Kaitila I,Ervasti H,Kinnunen J,Karaharju E,Knuutila S

更新日期：1998-01-01 00:00:00

abstract：:Welander distal myopathy (WDM) is an adult onset autosomal dominant disorder characterized by distal limb weakness, which progresses slowly from the fifth decade. All WDM patients are of Swedish or Finnish descent and share a rare chromosome 2p13 haplotype. We restricted the WDM-associated haplotype followed by whole ...

journal_title：Human mutation

authors： Klar J,Sobol M,Melberg A,Mäbert K,Ameur A,Johansson AC,Feuk L,Entesarian M,Orlén H,Casar-Borota O,Dahl N

更新日期：2013-04-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two genes responsible for TSC, TSC1 and TSC2, were recently identified. TSC1 and TSC2 encode the proteins hamartin and tuberin, respectively, and 337 different mutations have been reported in these genes thus...

journal_title：Human mutation

authors： Feng JH,Yamamoto T,Nanba E,Ninomiya H,Oka A,Ohno K

更新日期：2004-04-01 00:00:00

abstract：:XRCC2 genetic variants have been associated with breast cancer susceptibility. However, association studies have been complicated because XRCC2 variants are extremely rare and consist mainly of amino acid substitutions whose grouping is sensitive to misclassification by the predictive algorithms. We therefore function...

journal_title：Human mutation

authors： Hilbers FS,Luijsterburg MS,Wiegant WW,Meijers CM,Völker-Albert M,Boonen RA,van Asperen CJ,Devilee P,van Attikum H

更新日期：2016-09-01 00:00:00

abstract：:Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Causative biallelic germline mutations have been identified in RAB3GAP1, RAB3GAP2, or RAB18, each of which encode proteins involved in membrane traff...

journal_title：Human mutation

authors： Handley MT,Morris-Rosendahl DJ,Brown S,Macdonald F,Hardy C,Bem D,Carpanini SM,Borck G,Martorell L,Izzi C,Faravelli F,Accorsi P,Pinelli L,Basel-Vanagaite L,Peretz G,Abdel-Salam GM,Zaki MS,Jansen A,Mowat D,Glass I,S

更新日期：2013-05-01 00:00:00

abstract：:Glutamatergic neurotransmission is crucial for brain development, wiring neuronal function, and synaptic plasticity mechanisms. Recent genetic studies showed the existence of autosomal dominant de novo GRIN gene variants associated with GRIN-related disorders (GRDs), a rare pediatric neurological disorder caused by N-...

journal_title：Human mutation

authors： García-Recio A,Santos-Gómez A,Soto D,Julia-Palacios N,García-Cazorla À,Altafaj X,Olivella M

更新日期：2020-11-30 00:00:00

abstract：:Rare sequence variants in "high-risk" disease genes, often referred as unclassified variants (UVs), pose a serious challenge to genetic testing. However, UVs resulting in splicing alterations can be readily assessed by in vitro assays. Unfortunately, analytical and clinical interpretation of these assays is often chal...

journal_title：Human mutation

authors： de Garibay GR,Acedo A,García-Casado Z,Gutiérrez-Enríquez S,Tosar A,Romero A,Garre P,Llort G,Thomassen M,Díez O,Pérez-Segura P,Díaz-Rubio E,Velasco EA,Caldés T,de la Hoya M

更新日期：2014-01-01 00:00:00

abstract：:The Fifth International Mutation Detection Workshop brought together inventors and major users of mutation detection methodology in a freshly refurbished 17(th) century monastery in northern Italy. There were over 120 registrants from 22 nations, all of which gave either a poster or oral presentation, making it diffic...

journal_title：Human mutation

authors： Dianzani I,Landegren U,Camaschella C,Ponzone A,Piazza A,Cotton RG

更新日期：1999-01-01 00:00:00

abstract：:Classical galactosemia is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Our group developed a disease-specific database containing all of the reported sequence variants in GALT (Available at: http://arup.utah.edu/database/galactosemia/GALT_welcome.php; ...

journal_title：Human mutation

authors： Calderon FR,Phansalkar AR,Crockett DK,Miller M,Mao R

更新日期：2007-10-01 00:00:00

abstract：:Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Forty-nine differ...

journal_title：Human mutation

authors： Eng CM,Desnick RJ

更新日期：1994-01-01 00:00:00