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Updated: Aug 10, 2026
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes
Luigi Monti1, Federica Isidori2, Emidio Capriotti2,3
1Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
American Journal of Medical Genetics. Part A
|August 8, 2026
Summary
Biallelic variants in the PAICS gene cause rare congenital abnormalities and neurodevelopmental disorders. This study identifies a patient with compound heterozygous PAICS variants, exhibiting a broad spectrum of features previously seen in separate families.
Area of Science:
- Genetics
- Developmental Biology
- Biochemistry
Background:
- PAICS gene variants are linked to de novo purine synthesis (DNPS) disorders.
- Previously reported PAICS-associated phenotypes include severe congenital abnormalities or neurodevelopmental regression with ocular involvement.
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