IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.


:IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by bi-allelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database ( In this article, we review the function of IL-12Rβ1 and molecular genetics of human IL12RB1.


Hum Mutat


Human mutation


van de Vosse E,Haverkamp MH,Ramirez-Alejo N,Martinez-Gallo M,Blancas-Galicia L,Metin A,Garty BZ,Sun-Tan Ç,Broides A,de Paus RA,Keskin Ö,Çağdaş D,Tezcan I,Lopez-Ruzafa E,Aróstegui JI,Levy J,Espinosa-Rosales FJ,Sanal Ö,




Has Abstract


2013-10-01 00:00:00












  • Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.

    abstract::Biomedical data sharing is desirable, but problematic. Data "discovery" approaches-which establish the existence rather than the substance of data-precisely connect data owners with data seekers, and thereby promote data sharing. Cafe Variome ( was therefore designed to provide a general-pur...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Lancaster O,Beck T,Atlan D,Swertz M,Thangavelu D,Veal C,Dalgleish R,Brookes AJ

    更新日期:2015-10-01 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

  • A rare missense mutation in a type 2 diabetes patient decreases the transcriptional activity of human sterol regulatory element binding protein-1.

    abstract::Sterol regulatory element binding protein 1 (SREBP-1) transcription factors play a key role in energy homeostasis by regulating genes involved in both carbohydrate and lipid metabolism, and in adipocyte differentiation. The 5' end of the mRNA-encoding SREBP-1 exists in two forms, designated 1a and 1c. The divergence r...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Vernia S,Eberlé D,Hernandez Mijares A,Foufelle F,Casado M

    更新日期:2006-02-01 00:00:00

  • Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

    abstract::The melanocortin 1 receptor (MC1R), a member of the G protein-coupled receptors superfamily, mediates the response to melanocortins and is currently the best-described contributor to normal pigment variation in humans. A remarkably large number of natural polymorphisms, or variants, of the MC1R gene have been identifi...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Gerstenblith MR,Goldstein AM,Fargnoli MC,Peris K,Landi MT

    更新日期:2007-05-01 00:00:00

  • Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

    abstract::Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, vestibular dysfunction, and visual impairment due to retinitis pigmentosa. Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly c...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Becirovic E,Ebermann I,Nagy D,Zrenner E,Seeliger MW,Bolz HJ

    更新日期:2008-03-01 00:00:00

  • Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.

    abstract::Mutations in the low density lipoprotein (LDL)-receptor gene cause familial hypercholesterolemia (FH), an autosomal dominant disease associated to an increased risk of premature atherosclerosis. We describe two novel mutations found in Italian families and consisting in minor gene rearrangements. The first one (FH-Pis...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Motti C,Bertolini S,Rampa P,Trovatello G,Liberatoscioli L,Calandra S,Federici G,Cortese C

    更新日期:1998-01-01 00:00:00

  • Molecular basis of dihydropteridine reductase deficiency.

    abstract::The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcript...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Smooker PM,Cotton RG

    更新日期:1995-01-01 00:00:00

  • High-resolution DNA melting analysis: advancements and limitations.

    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

    pub_type: 杂志文章,评审


    authors: Wittwer CT

    更新日期:2009-06-01 00:00:00

  • Guide and links to online genetic and genomic educational resources, valuable for all levels.

    abstract::There is a well-recognized growing need for improved access to online genetic and genomics education for professionals, students, teachers, and the public. Numerous individual online genetic and genomic educational resources have been developed, but many are difficult to identify or locate when required. Consequently,...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Tobias AP,Tobias ES

    更新日期:2020-12-01 00:00:00

  • Hierarchical mutation screening protocol for the BRCA1 gene.

    abstract::The identification of mutations in the BRCA1 gene poses difficulties in achieving a screening outcome that satisfies the twin needs of speed and accuracy. These needs must also take into account the patient's family history and the statistical evaluation of the probability of detecting a mutation. Given the above, we ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Hegde MR,Chong B,Fawkner MJ,Leary J,Shelling AN,Culling B,Winship I,Love DR

    更新日期:2000-11-01 00:00:00

  • Central mutation databases--a review.

    abstract::The Internet has been a key component in the coordination of the diverse group of scientists involved in the Human Genome Project. Nowhere has this contribution been more critical than in the maintenance and exchange of information about genetic variation and mutation. Whereas the majority of DNA sequence is generated...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Porter CJ,Talbot CC,Cuticchia AJ

    更新日期:2000-01-01 00:00:00

  • A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

    abstract::The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Schepers D,Tortora G,Morisaki H,MacCarrick G,Lindsay M,Liang D,Mehta SG,Hague J,Verhagen J,van de Laar I,Wessels M,Detisch Y,van Haelst M,Baas A,Lichtenbelt K,Braun K,van der Linde D,Roos-Hesselink J,McGillivray G,M

    更新日期:2018-05-01 00:00:00

  • A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

    abstract::About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gene was first cloned ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: King K,Flinter FA,Green PM

    更新日期:2006-10-01 00:00:00

  • DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.

    abstract::Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin-1 gene (PSEN1) and are associated with the most aggressive forms of the disease. With the aim of screening for PSEN1 genetic variations, we developed a method based on denaturing gradient gel electrophoresis (DGGE) that allo...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Aldudo J,Bullido MJ,Valdivieso F

    更新日期:1999-01-01 00:00:00

  • A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.

    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

    pub_type: 杂志文章


    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

  • Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

    abstract::Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations in 35 unrelated Brazilian patients with heterozygous FH...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Salazar LA,Hirata MH,Cavalli SA,Nakandakare ER,Forti N,Diament J,Giannini SD,Bertolami MC,Hirata RD

    更新日期:2002-04-01 00:00:00

  • A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

    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

    pub_type: 杂志文章


    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

  • 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

  • Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cells.

    abstract::DNA mismatch repair (MMR) is essential for genome stability and inheritance of a mutated MMR gene, most frequently MSH2 or MLH1, results in cancer predisposition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC). Tumors that arise through MMR deficiency show instability at simple tandem repe...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Mendez-Bermudez A,Royle NJ

    更新日期:2011-08-01 00:00:00

  • Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

    abstract::MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts,...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pecci A,Panza E,Pujol-Moix N,Klersy C,Di Bari F,Bozzi V,Gresele P,Lethagen S,Fabris F,Dufour C,Granata A,Doubek M,Pecoraro C,Koivisto PA,Heller PG,Iolascon A,Alvisi P,Schwabe D,De Candia E,Rocca B,Russo U,Rameng

    更新日期:2008-03-01 00:00:00

  • A frequent somatic mutation in CD274 3'-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding.

    abstract::Inhibitory costimulatory molecule CD274 expresses in various cancers and contributes to cancer immune evasion by inhibiting T cell activation and proliferation, yet the regulatory mechanisms for CD274 overexpression in cancers are poorly understood. In this study, we discovered a novel mechanism of CD274 expression re...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Wang W,Sun J,Li F,Li R,Gu Y,Liu C,Yang P,Zhu M,Chen L,Tian W,Zhou H,Mao Y,Zhang L,Jiang J,Wu C,Hua D,Chen W,Lu B,Ju J,Zhang X

    更新日期:2012-03-01 00:00:00

  • Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.

    abstract::This study describes, for the first time, a thorough genetic investigation in Israeli Arab homocystinuric patients. By using a DGGE methodology and sequencing we were able to identify the disease causing mutation in all. Of the mutations that were detected, two are novel: a 785C>G transversion in exon 7 (T262R) and a ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Gat-Yablonski G,Mandel H,Fowler B,Taleb O,Sela BA

    更新日期:2000-10-01 00:00:00

  • Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

    abstract::Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Greber-Platzer S,Guldberg P,Scheibenreiter S,Item C,Schuller E,Patel N,Strobl W

    更新日期:1997-01-01 00:00:00

  • PCR-based detection of minority point mutations.

    abstract::The need for detection of minority mutations (i.e., a few mutants within a high excess of wild-type alleles) arises frequently in the field of cancer and molecular genetics. Current mutation detection technologies are limited by several technical factors when it comes to the detection of minority point mutations, incl...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Mike Makrigiorgos G

    更新日期:2004-05-01 00:00:00

  • Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

    abstract::Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic variants can independently confirm diagnosis and render genetic co...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Tomanin R,Karageorgos L,Zanetti A,Al-Sayed M,Bailey M,Miller N,Sakuraba H,Hopwood JJ

    更新日期:2018-12-01 00:00:00

  • A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.

    abstract::Phosphoglycerate kinase (PGK) is a X-linked enzyme that plays a key role in the glycolytic pathway. Twelve different variants have already been reported. We describe a new PGK variant, PGK Herlev (Asp 285-->Val), in a 69-year-old Danish patient with isolated chronic hemolysis but who had no neurological or muscular di...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Valentin C,Birgens H,Craescu CT,Brødum-Nielsen K,Cohen-Solal M

    更新日期:1998-01-01 00:00:00

  • Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

    abstract::Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and mol...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Zhang XJ,He PP,Li M,He CD,Yan KL,Cui Y,Yang S,Zhang KY,Gao M,Chen JJ,Li CR,Jin L,Chen HD,Xu SJ,Huang W

    更新日期:2004-06-01 00:00:00

  • NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.

    abstract::Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1. Similar phenotypes arise from NSD1 gene deletion or from point mutations in 9 of 13 NSD1 domains, including all 6 PHD domains, indicating that each NSD1 domain performs an essential role. To gain ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pasillas MP,Shah M,Kamps MP

    更新日期:2011-03-01 00:00:00

  • Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.

    abstract::Glucocorticoid (GC) resistance can occur in a number of diseases. It can be either generalized (i.e., familial glucocorticoid resistance) or localized (i.e., asthma). In many cases, a reason for this resistance to steroids lies with mutations or polymorphisms present in the glucocorticoid receptor gene (GR/NR3C1) that...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Bray PJ,Cotton RG

    更新日期:2003-06-01 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