A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.


: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 obtained from 35 family members, including 21 affected and 14 unaffected individuals. Using 2-point linkage analysis the EXT phenotype was shown to be linked to the recently cloned EXT2 gene on chromosome 11p11. The coding region of the gene was sequenced and a previously unreported splice site mutation found. This G to T transversion within a 5-prime splice donor site following exon 6 was shown to cause aberrant splicing of RNA. The described change is considered to be a novel disease-causing mutation in the EXT2 gene.


Hum Mutat


Human mutation


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





Has Abstract


1998-01-01 00:00:00












  • Mutations causing Gaucher disease.

    abstract::Glucocerebrosidase is a lysosomal enzyme responsible for hydrolysis of glucosylceramide to ceramide and glucose. Mutations disrupting the function of this enzyme cause autosomal recessive Gaucher disease. This disease is very heterogeneous. The clinical heterogeneity is due to a large number of mutations within the ge...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Horowitz M,Zimran A

    更新日期:1994-01-01 00:00:00

  • Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

    abstract::Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q,...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Hamelmann C,Amedofu GK,Albrecht K,Muntau B,Gelhaus A,Brobby GW,Horstmann RD

    更新日期:2001-01-01 00:00:00

  • Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

    abstract::The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant interpretation. We ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Mester JL,Ghosh R,Pesaran T,Huether R,Karam R,Hruska KS,Costa HA,Lachlan K,Ngeow J,Barnholtz-Sloan J,Sesock K,Hernandez F,Zhang L,Milko L,Plon SE,Hegde M,Eng C

    更新日期:2018-11-01 00:00:00

  • Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.

    abstract::The direct sequencing of the human type II procollagen (COL2A1) gene from polymerase chain reaction (PCR)-amplified genomic DNA is described. Thirty-two regions of the COL2A1 gene were asymmetrically amplified with intron primers which were specifically chosen to amplify a region spanning 500 to 800 bp of sequence enc...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Williams CJ,Harrison DA,Hopkinson I,Baldwin CT,Ahmad NN,Ala-Kokko L,Korn RM,Buxton PG,Dimascio J,Considine EL

    更新日期:1992-01-01 00:00:00

  • A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

    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

    pub_type: 杂志文章


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

    更新日期:2004-03-01 00:00:00

  • A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.

    abstract::Gaucher disease results from mutations in the glucocerebrosidase gene located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel mutation in a German-British patient with ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Choy FY,Humphries ML,Ben-Yoseph Y

    更新日期:1998-01-01 00:00:00

  • Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

    abstract::Mutations in each of the 13 identified human PEX genes are known to cause a peroxisomal biogenesis defect (PBD). Affected patients can be divided into two broad clinical spectra: the Zellweger spectrum, which accounts for about 80% of PBD patients, and the rhizomelia chondrodysplasia punctata (RCDP) spectrum. The clin...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Krause C,Rosewich H,Thanos M,Gärtner J

    更新日期:2006-11-01 00:00:00

  • Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

    abstract::Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the α subunit of the delayed rectifier voltage-dependent potassium channel Kv 2.1. We review the 3...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Bar C,Barcia G,Jennesson M,Le Guyader G,Schneider A,Mignot C,Lesca G,Breuillard D,Montomoli M,Keren B,Doummar D,Billette de Villemeur T,Afenjar A,Marey I,Gerard M,Isnard H,Poisson A,Dupont S,Berquin P,Meyer P,Gene

    更新日期:2020-01-01 00:00:00

  • Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes.

    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

    pub_type: 杂志文章


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

    更新日期:1999-01-01 00:00:00

  • Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.

    abstract::The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Sale MM,Craig JE,Charlesworth JC,FitzGerald LM,Hanson IM,Dickinson JL,Matthews SJ,Heyningen Vv Vv,Fingert JH,Mackey DA

    更新日期:2002-10-01 00:00:00

  • Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

    abstract::Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contrac...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Smith H,Galmes R,Gogolina E,Straatman-Iwanowska A,Reay K,Banushi B,Bruce CK,Cullinane AR,Romero R,Chang R,Ackermann O,Baumann C,Cangul H,Cakmak Celik F,Aygun C,Coward R,Dionisi-Vici C,Sibbles B,Inward C,Kim CA,Klu

    更新日期:2012-12-01 00:00:00

  • Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.

    abstract::Protein C (PC) is a key regulator of blood clotting and inflammation. Its inherited deficiency is associated with venous thromboembolism, and recombinant activated PC is currently used to increase survival in severe sepsis. The molecular basis of inherited PC deficiency is heterogeneous. Due to its multiple physiologi...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Rovida E,Merati G,D'Ursi P,Zanardelli S,Marino F,Fontana G,Castaman G,Faioni EM

    更新日期:2007-04-01 00:00:00

  • MouseFinder: Candidate disease genes from mouse phenotype data.

    abstract::Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Chen CK,Mungall CJ,Gkoutos GV,Doelken SC,Köhler S,Ruef BJ,Smith C,Westerfield M,Robinson PN,Lewis SE,Schofield PN,Smedley D

    更新日期:2012-05-01 00:00:00

  • A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.

    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

    pub_type: 杂志文章


    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

  • MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

    abstract::Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians ne...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Shen L,Attimonelli M,Bai R,Lott MT,Wallace DC,Falk MJ,Gai X

    更新日期:2018-06-01 00:00:00

  • Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

    abstract::X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of va...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Vihinen M,Kwan SP,Lester T,Ochs HD,Resnick I,Väliaho J,Conley ME,Smith CI

    更新日期:1999-01-01 00:00:00

  • Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.

    abstract::Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion of patients, likely due to rare yet undiscovered disease genes. By per...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Capuano A,Bucciotti F,Farwell KD,Tippin Davis B,Mroske C,Hulick PJ,Weissman SM,Gao Q,Spessotto P,Colombatti A,Doliana R

    更新日期:2016-01-01 00:00:00

  • No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood.

    abstract::Recent genome screening studies have identified novel regions of possible interest for susceptibility to type 1 diabetes. One of these is a 30-35 cM region mapping to 16q22-q24 (D16S515-D16S520), where also the gene encoding NAD(P)H: quinone oxidoreductase (NQO1) maps. Data has suggested association of a polymorphism ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Kristiansen OP,Larsen ZM,Johannesen J,Nerup J,Mandrup-Poulsen T,Pociot F

    更新日期:1999-01-01 00:00:00

  • Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.

    abstract::Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome caused by germline mutation of the gene encoding the tumour-suppressor E-cadherin (CDH1). We describe the search for CDH1 mutations in 36 new diffuse gastric cancer families. All 16 CDH1 exons, neighbouring intronic sequence and an essential ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: More H,Humar B,Weber W,Ward R,Christian A,Lintott C,Graziano F,Ruzzo AM,Acosta E,Boman B,Harlan M,Ferreira P,Seruca R,Suriano G,Guilford P

    更新日期:2007-02-01 00:00:00

  • Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

    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

    pub_type: 杂志文章


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

    更新日期:2000-01-01 00:00:00

  • Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.

    abstract::Cystic fibrosis (CF), the most common life-threatening genetic disease in Caucasians, is caused by ∼2,000 different mutations in the CF transmembrane conductance regulator (CFTR) gene. A significant fraction of these (∼13%) affect pre-mRNA splicing for which novel therapies have been somewhat neglected. We have previo...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Igreja S,Clarke LA,Botelho HM,Marques L,Amaral MD

    更新日期:2016-02-01 00:00:00

  • Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

    abstract::Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We screened 57 unrelated ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Biggin A,Holman K,Brett M,Bennetts B,Adès L

    更新日期:2004-01-01 00:00:00

  • Mechanistic insights into the link between a polymorphism of the 3'UTR of the SLC7A1 gene and hypertension.

    abstract::We previously identified the polymorphism ss52051869 in the 3'UTR of human SLC7A1, and demonstrated that it might participate in the apparent link between altered endothelial function, decreased L-arginine and nitric oxide (NO) metabolism, and a genetic predisposition to essential hypertension. Here, we demonstrate th...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Yang Z,Kaye DM

    更新日期:2009-03-01 00:00:00

  • Base-Biased Evolution of Disease-Associated Mutations in the Human Genome.

    abstract::Understanding the evolution of disease-associated mutations is fundamental to analyze pathogenetics of diseases. Mutation, recombination (by GC-biased gene conversion, gBGC), and selection have been known to shape the evolution of disease-associated mutations, but how these evolutionary forces work together is still a...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Xue C,Chen H,Yu F

    更新日期:2016-11-01 00:00:00

  • TP53 and head and neck neoplasms.

    abstract::Head and neck cancer is an important health problem around the world, accounting for approximately 500,000 new cases each year of head and neck squamous cell carcinoma (HNSCC). Carcinogenesis of head and neck results from a dysregulation of cellular proliferation, differentiation, and cell death. The major etiologic a...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Blons H,Laurent-Puig P

    更新日期:2003-03-01 00:00:00

  • A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males.

    abstract::FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. The FRAXE mutation is an expansion of a CCG repeat that results in methylation of a nearby CpG island. FRAXE alleles could be divided into four categories: normal (6-30 ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Santos CB,Costa Lima MA,Pimentel MM

    更新日期:2001-08-01 00:00:00

  • Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

    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

    pub_type: 杂志文章


    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

  • A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.

    abstract::Inherited genetic risk factors contribute toward breast cancer (BC) onset. BC risk variants can be divided into three categories of penetrance (high, moderate, and low) that reflect the probability of developing the disease. Traditional BC susceptibility gene discovery approaches that searched for high- and moderate-r...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Chandler MR,Bilgili EP,Merner ND

    更新日期:2016-09-01 00:00:00

  • High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography.

    abstract::Microsatellite instability (MSI) is a hallmark of the DNA replication error phenotype, due to the inactivation of mismatch repair genes. MSI has been implicated in colon and many other gastrointestinal cancers. MSI usually can be analyzed by PCR amplification of microsatellite markers followed by electrophoresis and d...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pan KF,Liu W,Lu YY,Zhang L,Li ZP,Lu WL,Thibodeau SN,You WC

    更新日期:2003-11-01 00:00:00

  • STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

    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

    pub_type: 杂志文章


    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