Brain Calcification

Gene: PTS

Red List (low evidence)

Although brain calcification might be seen in patients with BH4 deficiency, none of the papers mentions PTS variants found in the affected patients.
Further, there are multiple genes that can cause BH4 deficiency, of which PTS is one of them.
The suggested literature, PMID 16601879, reports a BH4 deficiency patient with brain calcification (No.544). However, the mutation analysis was not done for this patient.
Insufficient evidence suggests the causal role of the PTS gene in brain calcification.
Sources: Expert list

Created: 24 Apr 2023, 3:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640

Publications

• 16601879
• 32734340