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
| 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 |