Phenotype Vs Genotype in AADCd
Professor Mita Bertoldi and her team at Verona University Hospital, Italy
Professor Mita Bertoldi and her team at the University of Verona in Italy have conducted extensive research, as part of a larger study, to establish correlation between genotype and phenotype in AADCd. This important research that has already made significant findings with the much-anticipated results are soon to be published.
"Our study has great potential in guiding personalised pharmacological strategies for the treatment of rare diseases" said Professor Bertoldi.
You can read the series of published papers, thus far, below ...
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Compound Heterozygosis in AADC Deficiency and its Complex Phenotype in Terms of AADC Protein Population
New research suggests AADCd is less ultra-rare than previously thought. Records in 2019 established 82 variants, however that figure has grown exponentially, and current records show 420 variants ...
"The last systematic collection of genetic and clinical data was published in 2019 and is based on 123 confirmed patients and 82 variants (71% missense, 11% splice, 11% insertions/deletions/duplications, 7% others) in 58 genotypes (33% in homozygosis and 67% in compound heterozygosis), and no clear genotype-to-phenotype correlation has been established .
In the last three years, there has been a marked increase in the number of identified variants, as shown by the locus-specific database PNDdb (http://biopku.org/home/pndbdb.asp accessed on 30 August 2022) that currently (August 2022) reports 420 variants, highlighting that the number of variants has exponentially increased (Figure 1), with the compound heterozygous genotype contributing over 70% of genotypes ."
This important research by Professor Mita Bertoldi and Giovanni Bisello at the University of Verona in Italy, is part of a larger study to establish correlation between genotype and phenotype.
The Novel P330L Pathogenic Variant of Aromatic Amino Acid Decarboxylase Maps on the Catalytic Flexible Loop Underlying it's Crucial Role
Compound Heterozygosis in AADC deficiency; A Complex Phenotype Dissected Through Comparison Among Heterodimeric and Homodimeric AADC Proteins
New Variants of AADC deficiency Expand the Knowledge of Enzymatic Phenotypes
A Novel Compound Heterozygous Genotype Associated with Aromatic Amino Acid Decarboxylase deficiency; Clinical Aspects and Biochemical Studies
Heterozygosis in Aromatic Amino Acid Decarboxylase deficiency; Evidence for a Positive Interallelic Complementation Between R3470 and R358H Mutations
The Novel R347g Pathogenic Mutation of Aromatic Amino Acid Decarboxylase Provides Additional Molecular Insights into Enzyme Catalysis and Deficiency
Comprehensive Picture of the Mutations Associated with Aromatic Amino Acid Decarboxylase deficiency; From Molecular Mechanisms to Therapy Implications
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