R292X_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 :
c.874 C>T p.Arg292Ter. a compound heterozygous variant in the ABHD12 gene was identified. The proband carried the variants NM_001042472.3: c.874 C > T (NP_001035937.1: p.Arg292Ter) and NM_001042472.3: c.205_206del (NP_001035937.1: p.Trp69ValfsTer44). The probands mother was a carrier of the c.205_206del variant, while the father and sister (II-2) were carriers of the c.874 C > T variant

References (1)

Title : Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants - Long_2024_BMC.Med.Genomics_17_203
Author(s) : Long X , Xiong W , Wang X , Geng J , Zhong M , Huang Y , Liu M , Bu F , Cheng J , Lu Y , Yuan H
Ref : BMC Med Genomics , 17 :203 , 2024
Abstract :
PubMedSearch : Long_2024_BMC.Med.Genomics_17_203
PubMedID: 39123271
Gene_locus related to this paper: human-ABHD12