A novel PTRH2 missense mutation causing IMNEPD: a case report

Hossein Jafari Khamirani; Sina Zoghi; Mehdi Dianatpour; Aria Jankhah; Seyed Sajjad Tabei; Sanaz Mohammadi; Seyed Alireza Dastgheib

doi:10.1038/s41439-021-00147-9

A novel PTRH2 missense mutation causing IMNEPD: a case report

Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9.

Authors

Hossein Jafari Khamirani^{1

2}, Sina Zoghi², Mehdi Dianatpour^{1

3}, Aria Jankhah⁴, Seyed Sajjad Tabei², Sanaz Mohammadi⁵, Seyed Alireza Dastgheib⁶

Affiliations

¹ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
² Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Shiraz Genetic Counseling Center, Shiraz, Iran.
⁵ Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁶ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. dastgheib@sums.ac.ir.

Abstract

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.