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Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB
we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT (zeige MUT Proteine), p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA (zeige BCKDHA Proteine) and p.Glu286_Met290del in BCKDHB (zeige BCKDHB Proteine) gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants
The majority of patients had mutations in the PCCA (zeige PCCA Proteine) gene (18/25). A total of 26 mutations were noted: 20 in the PCCA (zeige PCCA Proteine) gene and 6 in PCCB gene. Seventeen mutations were novel (14 in PCCA (zeige PCCA Proteine) and 3 in PCCB).
Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA (zeige PCCA Proteine) gene and 2 affecting the PCCB gene
The c.-4156_183+3713del mutation is the first known large deletion that affects the PCCB gene functions.
mutations affect homomeric and heteromeric assembly of Propionyl-CoA Carboxylase
Structure-function analysis of a range of isolated PCCB subunit mutants has elucidated the complex relationship between genotype and phenotype in propionic acidemia.
Work showed 15 novel PCCB gene mutations and phenotype-genotype correlations for the prediction of the metabolic outcome and for the implementation of treatments tailored to each PA patient.
pathogenicity of R67S, R165Q and G112D mutations in PCCB gene in propionic acidemia
analysis of PCCA (zeige PCCA Proteine) and PCCB mutations in propionic acidemia
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.
PCCase subunit beta
, propanoyl-CoA:carbon dioxide ligase subunit beta
, propionyl Coenzyme A carboxylase, beta polypeptide
, propionyl-CoA carboxylase beta chain, mitochondrial
, propionyl coenzyme A carboxylase, beta polypeptide
, PCCase beta subunit
, propanoyl-CoA:carbon dioxide ligase beta subunit