Gene Locus : human-ABHD12
Mode of mutation : Natural mutant
Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.Arg262* c.784C > T, two siblings bilateral hearing loss and cataracts, signs of cerebellar ataxia, and neuropathy with a primarily demyelinating pattern in NCS. In one case, retinitis pigmentosa was also evident.
| 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 |