A novel PTRH2 missense mutation causing IMNEPD: a case report

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...

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Detalles Bibliográficos
Autores principales: Khamirani, Hossein Jafari, Zoghi, Sina, Dianatpour, Mehdi, Jankhah, Aria, Tabei, Seyed Sajjad, Mohammadi, Sanaz, Dastgheib, Seyed Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192544/
https://www.ncbi.nlm.nih.gov/pubmed/34112751
http://dx.doi.org/10.1038/s41439-021-00147-9
Descripción
Sumario: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.

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