Gene/phenotype/disorder of interest
PSAT1 / Phosphoserine aminotransferase deficiency (OMIM #610992); Neu-Laxova syndrome 2 (OMIM #616038)
Abstract
Biallelic PSAT1 variants impair de novo L-serine biosynthesis and cause a potentially treatable spectrum from prenatal Neu-Laxova syndrome 2 and infantile epileptic neurodevelopmental disease to juvenile/adult-onset spasticity, ichthyosis, ataxia, and CMT-like neuropathy. We have identified four unrelated Iranian families spanning this continuum. This international study aims to recruit additional published and unpublished cases, delineate the clinical and molecular spectrum, and investigate genotype-phenotype correlations, natural history, biochemical findings, and response to L-serine/glycine treatment. We invite de-identified clinical, biochemical, neurological, treatment, and molecular data from individuals with biallelic PSAT1 variants.
Coordinating clinician
Sajjad Biglari, PhD, Medical Geneticist; s1369b@yahoo.com
Institution
Farin Medical Genetics Laboratory, Tehran, Iran
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N