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Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.

作者信息

Bubshait Dalal K

机构信息

Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

出版信息

Clin Exp Pediatr. 2023 May;66(5):223-225. doi: 10.3345/cep.2022.01074. Epub 2023 Mar 23.

DOI:10.3345/cep.2022.01074
PMID:36949636
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10167404/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d916/10167404/857efc8e3700/cep-2022-01074f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d916/10167404/857efc8e3700/cep-2022-01074f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d916/10167404/857efc8e3700/cep-2022-01074f1.jpg

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1
Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings.一种新型PTRH2基因变异导致2名沙特兄弟姐妹患IMNEPD（婴儿期起病的多系统神经、内分泌和胰腺疾病）
Clin Exp Pediatr. 2023 May;66(5):223-225. doi: 10.3345/cep.2022.01074. Epub 2023 Mar 23.
2
A novel PTRH2 missense mutation causing IMNEPD: a case report.一种导致IMNEPD的新型PTRH2错义突变：病例报告
Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9.
3
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.婴儿期起病的多系统神经、内分泌和胰腺疾病（IMNEPD）的表型变异性。
Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z.
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A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.一名巴林患者中导致婴儿期起病的多系统神经、内分泌和胰腺疾病的新型PTRH2基因突变
Oman Med J. 2024 Jan 31;39(1):e599. doi: 10.5001/omj.2024.08. eCollection 2024 Jan.
5
Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.青少年智力障碍伴糖尿病：PTRH2 基因新的单碱基对重复导致的 IMNEPD 病例扩展。
Brain Dev. 2021 Feb;43(2):314-319. doi: 10.1016/j.braindev.2020.09.009. Epub 2020 Oct 20.
6
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.PTRH2 基因突变导致新型婴儿起病的多系统疾病，伴有智力残疾、小头畸形、进行性共济失调和肌肉无力。
Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3.
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The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.婴儿起病的多系统神经、内分泌和胰腺疾病的神经学核心特征：意大利一个家族中的一个新型无义突变。
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PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.PTRH2 对于浦肯野细胞的分化和存活是必需的，其缺失可重现 IMNEPD 患者中所见的进行性小脑萎缩和共济失调。
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Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.基因变异：表型特征及其生物信息学分析的最新综述。
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引用本文的文献

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Mitochondrial PTRH2 controls the deubiquitinase TRABID to regulate mt-ND5 stability and metabolism.线粒体PTRH2控制去泛素化酶TRABID以调节mt-ND5的稳定性和代谢。
PNAS Nexus. 2025 May 31;4(6):pgaf178. doi: 10.1093/pnasnexus/pgaf178. eCollection 2025 Jun.
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Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases.

本文引用的文献

1
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.PTRH2 对于浦肯野细胞的分化和存活是必需的，其缺失可重现 IMNEPD 患者中所见的进行性小脑萎缩和共济失调。
Cerebellum. 2023 Dec;22(6):1137-1151. doi: 10.1007/s12311-022-01488-z. Epub 2022 Oct 11.
2
A novel PTRH2 missense mutation causing IMNEPD: a case report.一种导致IMNEPD的新型PTRH2错义突变：病例报告
Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9.
3
A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.
1型婴儿期起病的多系统神经、内分泌和胰腺疾病中的严重呼吸和吞咽障碍：两例报告
Neurol Genet. 2024 Aug 21;10(5):e200178. doi: 10.1212/NXG.0000000000200178. eCollection 2024 Oct.
PTRH2和KIF1A基因变异的一种新型协同关联与一种遗传性轴索性神经病、外毛细胞功能障碍、智力残疾、胰腺脂肪瘤病、糖尿病、小脑萎缩和椎动脉发育不全综合征相关。
Cureus. 2021 Feb 6;13(2):e13174. doi: 10.7759/cureus.13174.
4
PTRH2: an adhesion regulated molecular switch at the nexus of life, death, and differentiation.PTRH2：生命、死亡和分化关联处的一种黏附调节分子开关。
Cell Death Discov. 2020 Nov 12;6(1):124. doi: 10.1038/s41420-020-00357-0.
5
Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.青少年智力障碍伴糖尿病：PTRH2 基因新的单碱基对重复导致的 IMNEPD 病例扩展。
Brain Dev. 2021 Feb;43(2):314-319. doi: 10.1016/j.braindev.2020.09.009. Epub 2020 Oct 20.
6
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.婴儿期起病的多系统神经、内分泌和胰腺疾病：病例与综述。
Can J Neurol Sci. 2019 Jul;46(4):459-463. doi: 10.1017/cjn.2019.35. Epub 2019 May 6.
7
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.PTRH2基因的纯合突变导致进行性感音神经性耳聋和周围神经病变。
Am J Med Genet A. 2017 Apr;173(4):1051-1055. doi: 10.1002/ajmg.a.38140.
8
PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.PTRH2基因突变导致进行性先天性骨骼肌病变。
Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048.
9
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.PTRH2 基因突变导致新型婴儿起病的多系统疾病，伴有智力残疾、小头畸形、进行性共济失调和肌肉无力。
Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3.