An online locus-specific mutation database for familial hypertrophic cardiomyopathy.


:The aim of this locus-specific mutation database was to provide an online resource that contains summarised and updated information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data, for researchers and clinicians. It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations. There are 123 FHC-associated mutations catalogued along with ancillary information. By implementing the cgi/http method, remote users can query the database via the HTML interface on the Web browser and obtain data of relevance to them. The online service is available on


Hum Mutat


Human mutation


Fung DC,Yu B,Littlejohn T,Trent RJ





Has Abstract


1999-01-01 00:00:00














  • Annotation of functional impact of voltage-gated sodium channel mutations.

    abstract::Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotr...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Hinard V,Britan A,Schaeffer M,Zahn-Zabal M,Thomet U,Rougier JS,Bairoch A,Abriel H,Gaudet P

    更新日期:2017-05-01 00:00:00

  • Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.

    abstract::Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recess...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Yang CF,Wang CH,Siong H'ng W,Chang CP,Lin WD,Chen YT,Wu JY,Tsai FJ

    更新日期:2017-05-01 00:00:00

  • Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

    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

    pub_type: 杂志文章


    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

  • A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

    abstract::The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against a strong deleteriou...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Niel F,Legendre M,Bienvenu T,Bieth E,Lalau G,Sermet I,Bondeux D,Boukari R,Derelle J,Levy P,Ruszniewski P,Martin J,Costa C,Goossens M,Girodon E

    更新日期:2006-07-01 00:00:00

  • RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.

    abstract::Primary vesicoureteral reflux (pVUR) is a common, genetically heterogeneous congenital urinary tract abnormality in children. It causes urine to flow backward from the bladder to the ureter due to a developmental defect at the vesicoureteral junction, whose formation requires rearrangement during transformation (Ret)-...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Yang Y,Houle AM,Letendre J,Richter A

    更新日期:2008-05-01 00:00:00

  • Mutations of the APC (adenomatous polyposis coli) gene.

    abstract::Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as well as somatic mutations in tumors developed in digestive organs (stomach, pancreas, colon, and rectum). Those results provide evidence that inactivation of the APC gene plays a significant ...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Nagase H,Nakamura Y

    更新日期:1993-01-01 00:00:00

  • Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

    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

    pub_type: 杂志文章,评审


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

    更新日期:2006-08-01 00:00:00

  • A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.

    abstract::In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this varia...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Galanello R,Loi D,Sollaino C,Dessì S,Cao A,Melis MA

    更新日期:1998-01-01 00:00:00

  • Screening practices for mutations in the CFTR gene ABCC7.

    abstract::Cystic fibrosis transmembrane conductance regulator (CFTR) gene studies are now one of the most frequent activities in clinical molecular genetics laboratories. The number of requests is growing, owing to the increasingly wide range of recognized CFTR gene diseases (cystic fibrosis, congenital bilateral absence of the...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Girodon-Boulandet E,Cazeneuve C,Goossens M

    更新日期:2000-01-01 00:00:00

  • Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms.

    abstract::Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this tec...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Fakhrai-Rad H,Pourmand N,Ronaghi M

    更新日期:2002-05-01 00:00:00

  • Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.

    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

    pub_type: 杂志文章


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

    更新日期:2016-10-01 00:00:00

  • Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

    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

    pub_type: 杂志文章


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

    更新日期:2003-05-01 00:00:00

  • VIPdb, a genetic Variant Impact Predictor Database.

    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

    pub_type: 杂志文章


    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

  • DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

    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

    pub_type: 已发布勘误


    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

  • The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon.

    abstract::The 185delAG mutation (c.68_69delAG; ter39) in the BRCA1 gene is a founder Jewish Ashkenazi mutation that is carried by 1% of this population and has been identified in thousands of breast or ovarian cancer patients. We have previously described that transcripts bearing this mutation, as well as transcripts bearing th...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Buisson M,Anczuków O,Zetoune AB,Ware MD,Mazoyer S

    更新日期:2006-10-01 00:00:00

  • Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.

    abstract::The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators. In consequence, adverse drug reactions may occur if standard doses of thiopurines are applied routinely. Gen...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Schaeffeler E,Eichelbaum M,Reinisch W,Zanger UM,Schwab M

    更新日期:2006-09-01 00:00:00

  • Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

    abstract::The Human Variome Project (HVP) is an international consortium of clinicians, geneticists, and researchers from over 30 countries, aiming to facilitate the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease....

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pan M,Cong P,Wang Y,Lin C,Yuan Y,Dong J,Banerjee S,Zhang T,Chen Y,Zhang T,Chen M,Hu P,Zheng S,Zhang J,Qi M

    更新日期:2011-12-01 00:00:00

  • GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

    abstract::We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). We describe two probands: one with a de novo frameshift (NM_002140.3: c.953+1dup), and the other with a de novo splice donor site variant (NM_002140.3: c.257G>A). Both probands have intellectual di...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Au PYB,You J,Caluseriu O,Schwartzentruber J,Majewski J,Bernier FP,Ferguson M,Care for Rare Canada Consortium.,Valle D,Parboosingh JS,Sobreira N,Innes AM,Kline AD

    更新日期:2015-10-01 00:00:00

  • Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.

    abstract::The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (HGMD) is a two-stage process: first, the mutation must occur at the DNA level, then it must cause a clinically detectable disease state. The likelihood of the latter step, termed the relative clinical observation likeli...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Terp BN,Cooper DN,Christensen IT,Jørgensen FS,Bross P,Gregersen N,Krawczak M

    更新日期:2002-08-01 00:00:00

  • A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.

    abstract::Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with five affected siblings for which no loss-of-function variants were identified by whole exo...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Besse W,Choi J,Ahram D,Mane S,Sanna-Cherchi S,Torres V,Somlo S

    更新日期:2018-03-01 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

  • 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

  • Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

    abstract::Rett syndrome (RTT or RS) is a neurodevelopmental disorder and one of the most frequent genetic diseases in girls. Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes. The MECP2 gene (Xq28) has been described in 1992. Up to now, 218 different mutations have been reported in a total gro...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Miltenberger-Miltenyi G,Laccone F

    更新日期:2003-08-01 00:00:00

  • Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.

    abstract::The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investiga...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pezzetti F,Martinelli M,Scapoli L,Carinci F,Palmieri A,Marchesini J,Carinci P,Caramelli E,Rullo R,Gombos F,Tognon M

    更新日期:2004-07-01 00:00:00

  • Truncating somatic mutation in exon 15 of the APC gene is a rare event in human breast carcinomas. Mutations in brief no. 179. Online.

    abstract::Inactivation of the adenomatous polyposis coli (APC) gene is an early event in sporadic colorectal cancer. Somatic mutations have also been detected in cancers of the stomach, pancreas, thyroid, ovary and breast. Over 95% of the mutations reported in the APC gene are frameshift and nonsense mutations. The large exon 1...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Sørlie T,Bukholm I,Børresen-Dale AL

    更新日期:1998-01-01 00:00:00

  • Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy.

    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

  • A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.

    abstract::Mutations in the SLC22A5 gene, which encodes for the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). After our first report of OCTN2 mutations in Chinese, three more Chinese PCD patients were identified. The parents of these families were non-consanguineous and these families wer...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Tang NL,Hwu WL,Chan RT,Law LK,Fung LM,Zhang WM

    更新日期:2002-09-01 00:00:00

  • Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

    abstract::Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH poly...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Isidro G,Laranjeira F,Pires A,Leite J,Regateiro F,Castro e Sousa F,Soares J,Castro C,Giria J,Brito MJ,Medeira A,Teixeira R,Morna H,Gaspar I,Marinho C,Jorge R,Brehm A,Ramos JS,Boavida MG

    更新日期:2004-10-01 00:00:00

  • EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

    abstract::Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-li...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Skopkova M,Hennig F,Shin BS,Turner CE,Stanikova D,Brennerova K,Stanik J,Fischer U,Henden L,Müller U,Steinberger D,Leshinsky-Silver E,Bottani A,Kurdiova T,Ukropec J,Nyitrayova O,Kolnikova M,Klimes I,Borck G,Bahlo M,

    更新日期:2017-04-01 00:00:00

  • Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

    abstract::The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition. In this study, 41 AT families from Denmark, Finland, Norway, and Sweden were screened for ATM mutations. Th...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Laake K,Jansen L,Hahnemann JM,Brondum-Nielsen K,Lönnqvist T,Kääriäinen H,Sankila R,Lähdesmäki A,Hammarström L,Yuen J,Tretli S,Heiberg A,Olsen JH,Tucker M,Kleinerman R,Børresen-Dale AL

    更新日期:2000-09-01 00:00:00