A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.

Q2 Medicine
Oman Medical Journal Pub Date : 2024-01-31 eCollection Date: 2024-01-01 DOI:10.5001/omj.2024.08
Hasan M Isa, Sara D Khalaf, Sara Janahi, Mohamed M Naser, Noor Al Hamad, Hasan Alhaddar, Maryam Busehail
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引用次数: 0

Abstract

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficiency. The diagnosis was confirmed by genetic testing using whole exome sequencing. This is the first reported case of IMNEPD from Bahrain and was found to have a novel homozygous peptidyl-tRNA hydrolase 2 (PTRH2) gene mutation (NM_001015509.2: c.370del p.(Glu124Lysfs*4)). Moreover, we conducted an extensive literature review with an emphasis on the variable clinical spectrum and genotypes of previously reported patients in comparison to our case.

一名巴林患者的新型 PTRH2 基因突变导致婴儿期发病的多系统神经系统、内分泌和胰腺疾病。
婴儿期发病的多系统神经病、内分泌病和胰腺病(IMNEPD)是一种罕见的常染色体隐性多系统疾病,发病率小于 1/1000000。该病的症状和相关疾病范围很广,因此诊断该病特别具有挑战性。在此,我们报告了一名 12 岁的巴林男性患者,他具有 IMNEPD 的核心临床特征,包括智力障碍、全面发育迟缓、感音神经性听力损失、内分泌功能障碍和胰腺外分泌功能不全。诊断是通过全外显子组测序基因检测确诊的。这是巴林报告的首例IMNEPD病例,该病例被发现患有新型同基因肽基-tRNA水解酶2(PTRH2)基因突变(NM_001015509.2:c.370del p.(Glu124Lysfs*4))。此外,我们还进行了广泛的文献综述,重点是与我们的病例相比,之前报道的患者的临床谱系和基因型各不相同。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Oman Medical Journal
Oman Medical Journal Medicine-Medicine (all)
CiteScore
3.10
自引率
0.00%
发文量
119
审稿时长
12 weeks
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