ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.


:Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disorder. Despite the numerous genes associated with RP already identified, the genetic basis remains unknown in a substantial number of patients and families. In this study, we performed whole-exome sequencing to investigate the molecular basis of a syndromic RP case that cannot be solved by mutations in known disease-causing genes. After applying a series of variant filtering strategies, we identified an apparently homozygous frameshift mutation, c.31delC (p.Q11Rfs*24) in the ADIPOR1 gene. The reported phenotypes of Adipor1-null mice contain retinal dystrophy, obesity, and behavioral abnormalities, which highly mimic those in the syndromic RP patient. We further confirmed ADIPOR1 retina expression by immunohistochemistry. Our results established ADIPOR1 as a novel disease-causing gene for syndromic RP and highlight the importance of fatty acid transport in the retina.


Hum Mutat


Human mutation


Xu M,Eblimit A,Wang J,Li J,Wang F,Zhao L,Wang X,Xiao N,Li Y,Wong LJ,Lewis RA,Chen R




Has Abstract


2016-03-01 00:00:00












  • The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

    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

    pub_type: 杂志文章


    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

  • wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases.

    abstract::Most genomic alterations are tolerated while only a minor fraction disrupts molecular function sufficiently to drive disease. Protein kinases play a central biological function and the functional consequences of their variants are abundantly characterized. However, this heterogeneous information is often scattered acr...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Vazquez M,Pons T,Brunak S,Valencia A,Izarzugaza JM

    更新日期:2016-01-01 00:00:00

  • A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.

    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

    pub_type: 杂志文章


    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

  • 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

  • Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

    abstract::Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment of ASS function can lead to a wide spectrum of phenotypes, from life-threatening neonatal hyperammonemia to a later onset with mild symptoms...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Diez-Fernandez C,Rüfenacht V,Häberle J

    更新日期:2017-05-01 00:00:00

  • CACNA1H variants are not a cause of monogenic epilepsy.

    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

    pub_type: 杂志文章


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

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  • Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations.

    abstract::M6P/IGF2R encodes a multifunctional protein involved in lysosomal enzyme trafficking, fetal organogenesis, tumor suppression, and cytotoxic T cell-induced apoptosis. M6P/IGF2R is imprinted and expressed only from the maternally inherited allele in marsupials and rodents. In contrast, humans were initially reported to ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Killian JK,Oka Y,Jang HS,Fu X,Waterland RA,Sohda T,Sakaguchi S,Jirtle RL

    更新日期:2001-01-01 00:00:00

  • Cytogenetically visible inversions are formed by multiple molecular mechanisms.

    abstract::Cytogenetically detected inversions are generally assumed to be copy number and phenotypically neutral events. While nonallelic homologous recombination is thought to play a major role, recent data suggest the involvement of other molecular mechanisms in inversion formation. Using a combination of short-read whole-gen...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pettersson M,Grochowski CM,Wincent J,Eisfeldt J,Breman AM,Cheung SW,Krepischi ACV,Rosenberg C,Lupski JR,Ottosson J,Lovmar L,Gacic J,Lundberg ES,Nilsson D,Carvalho CMB,Lindstrand A

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  • 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

  • Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

    abstract::The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD). Several mutations, most of which are private, have been identified in HEP and fPCT patients, confirming the heteroge...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Christiansen L,Ged C,Hombrados I,Brons-Poulsen J,Fontanellas A,de Verneuil H,Hørder M,Petersen NE

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  • Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

    abstract::Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Bogdanova N,Lemcke B,Markoff A,Pollmann H,Dworniczak B,Eigel A,Horst J

    更新日期:2001-12-01 00:00:00

  • Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

    abstract::We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described. HPRT Zaragoza II (...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Torres RJ,Mateos FA,Molano J,Gathoff BS,O'Neill JP,Gundel RM,Trombley L,Puig JG

    更新日期:2000-04-01 00:00:00

  • BRCA1 and BRCA2 mutations in Russian familial breast cancer.

    abstract::We have screened index cases from 25 Russian breast/ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using multiplex heteroduplex analysis. In addition we tested 22 patients with breast cancer diagnosed before age 40 without family history and 6 patients with bilateral ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Tereschenko IV,Basham VM,Ponder BA,Pharoah PD

    更新日期:2002-02-01 00:00:00

  • Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

    abstract::For most Mendelian disorders, targeted genome sequencing is an effective method to detect causative mutations. However, sequencing PCR-amplified exonic regions and their intronic boundaries can miss large deletions or duplications and mutations that lead to PCR failures in autosomal dominant disorders and in heterozyg...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Dobrovolny R,Nazarenko I,Kim J,Doheny D,Desnick RJ

    更新日期:2011-06-01 00:00:00

  • Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

    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

    pub_type: 杂志文章


    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

  • Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.

    abstract::Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5r) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5r gene of three unrelated patients with types I and II and found four novel mutations. The patient...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Kugler W,Pekrun A,Laspe P,Erdlenbruch B,Lakomek M

    更新日期:2001-04-01 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

  • Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

    abstract::We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or de...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Ruaud L,Rice GI,Cabrol C,Piard J,Rodero M,van Eyk L,Boucher-Brischoux E,de Noordhout AM,Maré R,Scalais E,Pauly F,Debray FG,Dobyns W,Uggenti C,Park JW,Hur S,Livingston JH,Crow YJ,Van Maldergem L

    更新日期:2018-08-01 00:00:00

  • Describing structural changes by extending HGVS sequence variation nomenclature.

    abstract::New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of the Human Genome Variation Society (HGVS,, because ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Taschner PE,den Dunnen JT

    更新日期:2011-05-01 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

  • Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

    abstract::Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutations-IVS8-1(G>A, IV...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Arranz JA,Piñol F,Kozak L,Pérez-Cerdá C,Cormand B,Ugarte M,Riudor E

    更新日期:2002-09-01 00:00:00

  • Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

    abstract::MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across eukaryotes. Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and musc...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Utami KH,Winata CL,Hillmer AM,Aksoy I,Long HT,Liany H,Chew EG,Mathavan S,Tay SK,Korzh V,Sarda P,Davila S,Cacheux V

    更新日期:2014-11-01 00:00:00

  • A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleft.

    abstract::microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of nonsyndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pan Y,Li D,Lou S,Zhang C,Du Y,Jiang H,Zhang W,Ma L,Wang L

    更新日期:2018-05-01 00:00:00

  • Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors.

    abstract::Both the mutational status and the specific mutation of TP53 (p53) have been shown to impact both tumor prognosis and response to therapies. Molecular profiling of solid tumors is confounded by infiltrating wild-type cells, since normal DNA can interfere with detection of mutant sequences. Our objective was to identif...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Favis R,Huang J,Gerry NP,Culliford A,Paty P,Soussi T,Barany F

    更新日期:2004-07-01 00:00:00

  • Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

    abstract::The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individuals, while 8 were ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Origone P,De Luca A,Bellini C,Buccino A,Mingarelli R,Costabel S,La Rosa C,Garrè C,Coviello DA,Ajmar F,Dallapiccola B,Bonioli E

    更新日期:2002-07-01 00:00:00

  • Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

    abstract::A large number of sequence variants identified in BRCA1 and BRCA2 cannot be distinguished as either disease-causing mutations or neutral variants. These so-called unclassified variants (UVs) include variants that are located in the intronic sequences of BRCA1 and BRCA2. The purpose of this study was to assess the use ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Vreeswijk MP,Kraan JN,van der Klift HM,Vink GR,Cornelisse CJ,Wijnen JT,Bakker E,van Asperen CJ,Devilee P

    更新日期:2009-01-01 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

  • A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.

    abstract::Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located in peroxisomes. Ther...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Jagiello P,Hammans C,Wieczorek S,Arning L,Stefanski A,Strehl H,Epplen JT,Gencik M

    更新日期:2003-06-01 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

  • Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B.

    abstract::Human Fcgamma receptors (FcgammaRs) are glycoproteins that bind the Fc region of IgG. The genes encoding the low-affinity FcgammaRs are located on chromosome 1q23-24. Beside single nucleotide polymorphisms (SNPs), gene copy number variation (CNV) is now being recognized as an important indicator for inter-individual d...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Breunis WB,van Mirre E,Geissler J,Laddach N,Wolbink G,van der Schoot E,de Haas M,de Boer M,Roos D,Kuijpers TW

    更新日期:2009-05-01 00:00:00