A novel PTRH2 missense mutation causing IMNEPD: a case report.

Hossein Jafari KhamiraniSina ZoghiMehdi DianatpourAria JankhahSeyed Sajjad TabeiSanaz MohammadiSeyed Alireza Dastgheib

Published in: Human genome variation (2021)

PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM_016077.5: c.68T > C, p.V23A). The proband has myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.

Keyphrases

cerebral palsy
genome wide
gene expression
replacement therapy
smoking cessation