Alternative name(s) :
Gene_locus : human-ABHD12
Mutation : 18 mutations 59kbdel_human-ABHD12 K377X_human-ABHD12 14kbdel_human-ABHD12 D113FX15_human-ABHD12 H285XfsX1_human-ABHD12 R352X_human-ABHD12 R65X_human-ABHD12 T202I_human-ABHD12 T253R_human-ABHD12 R107Efs_human-ABHD12 W159X_human-ABHD12 R186P_human-ABHD12 H372Q_human-ABHD12 N127DfsX23_human-ABHD12 IVS2_human-ABHD12 R71DfsX26_human-ABHD12 Y83X_human-ABHD12 R262X_human-ABHD12
Comment
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease. Patients present early-onset cataract and hearing loss, retinitis pigmentosa. Both the central and peripheral nervous systems are affected. Other features are demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Fiskerstrand et al. identified the disease in a norwegian family. Mutations in ABHD12 cause the PHARC. Polyneuropathy and ataxia can be mild and symptomes can be close to those of Usher syndrome type 3 as shown by Eisenberg et al.| Title : Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome - Thimm_2020_J.Peripher.Nerv.Syst__ |
| Author(s) : Thimm A , Rahal A , Schoen U , Abicht A , Klebe S , Kleinschnitz C , Hagenacker T , Stettner M |
| Ref : J Peripher Nerv Syst , : , 2020 |
| Abstract : Thimm_2020_J.Peripher.Nerv.Syst__ |
| ESTHER : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedSearch : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedID: 32077159 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review - Li_2019_Gene_704_113 |
| Author(s) : Li T , Feng Y , Liu Y , He C , Liu J , Chen H , Deng Y , Li M , Li W , Song J , Niu Z , Sang S , Wen J , Men M , Chen X , Li J , Liu X , Ling J |
| Ref : Gene , 704 :113 , 2019 |
| Abstract : Li_2019_Gene_704_113 |
| ESTHER : Li_2019_Gene_704_113 |
| PubMedSearch : Li_2019_Gene_704_113 |
| PubMedID: 30974196 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene - Frasquet_2018_J.Neurol.Sci_387_134 |
| Author(s) : Frasquet M , Lupo V , Chumillas MJ , Vazquez-Costa JF , Espinos C , Sevilla T |
| Ref : Journal of Neurology Sci , 387 :134 , 2018 |
| Abstract : Frasquet_2018_J.Neurol.Sci_387_134 |
| ESTHER : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedSearch : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedID: 29571850 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Comprehensive Molecular Screening in Chinese Usher Syndrome Patients - Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| Author(s) : Sun T , Xu K , Ren Y , Xie Y , Zhang X , Tian L , Li Y |
| Ref : Invest Ophthalmol Vis Sci , 59 :1229 , 2018 |
| Abstract : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| ESTHER : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| PubMedSearch : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| PubMedID: 29625443 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature - Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| Author(s) : Lerat J , Cintas P , Beauvais-Dzugan H , Magdelaine C , Sturtz F , Lia AS |
| Ref : J Peripher Nerv Syst , 22 :77 , 2017 |
| Abstract : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| ESTHER : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedSearch : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedID: 28448692 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC - Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| Author(s) : Tingaud-Sequeira A , Raldua D , Lavie J , Mathieu G , Bordier M , Knoll-Gellida A , Rambeau P , Coupry I , Andre M , Malm E , Moller C , Andreasson S , Rendtorff ND , Tranebjaerg L , Koenig M , Lacombe D , Goizet C , Babin PJ |
| Ref : Neurobiol Dis , 98 :36 , 2017 |
| Abstract : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| ESTHER : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedSearch : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedID: 27890673 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness - Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| Author(s) : Yoshimura H , Hashimoto T , Murata T , Fukushima K , Sugaya A , Nishio SY , Usami S |
| Ref : Ann Otol Rhinol Laryngol , 124 Suppl 1 :77S , 2015 |
| Abstract : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| ESTHER : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| PubMedSearch : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| PubMedID: 25743180 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620 |
| Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C |
| Ref : Ophthalmology , 121 :1620 , 2014 |
| Abstract : Nishiguchi_2014_Ophthalmology_121_1620 |
| ESTHER : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedID: 24697911 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects - Chen_2013_Hum.Mutat_34_1672 |
| Author(s) : Chen DH , Naydenov A , Blankman JL , Mefford HC , Davis M , Sul Y , Barloon AS , Bonkowski E , Wolff J , Matsushita M , Smith C , Cravatt BF , Mackie K , Raskind WH , Stella N , Bird TD |
| Ref : Hum Mutat , 34 :1672 , 2013 |
| Abstract : Chen_2013_Hum.Mutat_34_1672 |
| ESTHER : Chen_2013_Hum.Mutat_34_1672 |
| PubMedSearch : Chen_2013_Hum.Mutat_34_1672 |
| PubMedID: 24027063 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 - Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| Author(s) : Eisenberger T , Slim R , Mansour A , Nauck M , Nurnberg G , Nurnberg P , Decker C , Dafinger C , Ebermann I , Bergmann C , Bolz H |
| Ref : Orphanet J Rare Dis , 7 :59 , 2012 |
| Abstract : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| ESTHER : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| PubMedSearch : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| PubMedID: 22938382 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM |
| Ref : American Journal of Human Genetics , 87 :410 , 2010 |
| Abstract : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| ESTHER : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedSearch : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedID: 20797687 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A novel Refsum-like disorder that maps to chromosome 20 - Fiskerstrand_2009_Neurology_72_20 |
| Author(s) : Fiskerstrand T , Knappskog P , Majewski J , Wanders RJ , Boman H , Bindoff LA |
| Ref : Neurology , 72 :20 , 2009 |
| Abstract : Fiskerstrand_2009_Neurology_72_20 |
| ESTHER : Fiskerstrand_2009_Neurology_72_20 |
| PubMedSearch : Fiskerstrand_2009_Neurology_72_20 |
| PubMedID: 19005174 |
| Gene_locus related to this paper: human-ABHD12 |