A novel PTRH2 missense mutation causing IMNEPD: a case report
| Autor: | Aria Jankhah, Mehdi Dianatpour, Hossein Jafari Khamirani, Seyed Sajjad Tabei, Sanaz Mohammadi, Seyed Alireza Dastgheib, Sina Zoghi |
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| Rok vydání: | 2021 |
| Předmět: |
Proband
Pediatrics medicine.medical_specialty Pancreatic disease business.industry Spastic diplegic cerebral palsy QH426-470 Neuromuscular disease medicine.disease Biochemistry Life QH501-531 Data Report Genetics medicine Missense mutation Endocrine system Movement disorders business Molecular Biology Rare disease |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021) |
| ISSN: | 2054-345X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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