Patients with hyperprolinemia type I caused by biallelic PRODH mutations have been shown to exhibit early onset and severe neurological features including autistic features (Afenjar et al., 2007).
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 [MIM:239500] and susceptibility to schizophrenia 4 (SCZD4) [MIM:600850]. This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22.
Type of Disorder
Early neurological phenotype in 4 children with biallelic PRODH mutations.