一种导致IMNEPD的新型PTRH2错义突变：病例报告
A novel PTRH2 missense mutation causing IMNEPD: a case report.
作者信息
Khamirani Hossein Jafari, Zoghi Sina, Dianatpour Mehdi, Jankhah Aria, Tabei Seyed Sajjad, Mohammadi Sanaz, Dastgheib Seyed Alireza
机构信息
Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
出版信息
Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9.
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.
PTRH2基因缺陷与一种极为罕见的疾病相关，即婴儿期起病的多系统神经、内分泌和胰腺疾病（IMNEPD）。我们报告了首例患有IMNEPD的伊朗患者。我们在PTRH2基因（NM_016077.5: c.68T > C, p.V23A）中检测到一个致病变异。先证者患有近视、痉挛性双侧瘫脑瘫、尿路结石以及癫痫病史。
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