R262X_human-ABHD12

General

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.

References (1)

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
PubMedID: 32077159
Gene_locus related to this paper: human-ABHD12