A novel PTRH2 missense mutation causing IMNEPD: a case report

Khamirani, Hossein Jafari; Zoghi, Sina; Dianatpour, Mehdi; Jankhah, Aria; Tabei, Seyed Sajjad; Mohammadi, Sanaz; Dastgheib, Seyed Alireza

doi:10.1038/s41439-021-00147-9

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…The other two missense mutations, V23A and Y94N, had been documented in Iranian and Japanese ethnicities, respectively [20,25]. According to Khamirani et al [25], the V23A mutation may result in movement disorders, motor delay, and severe myopia, though the gastrointestinal examination was unremarkable. Also, facial dysmorphism and hearing disorders were not reported.…”

Section: Discussionmentioning

confidence: 99%

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Sharkia

Jain

Mahajnah

et al. 2023

Genes

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Peptidyl-tRNA hydrolase 2 (PTRH2) is an evolutionarily highly conserved mitochondrial protein. The biallelic mutations in the PTRH2 gene have been suggested to cause a rare autosomal recessive disorder characterized by an infantile-onset multisystem neurologic endocrine and pancreatic disease (IMNEPD). Patients with IMNEPD present varying clinical manifestations, including global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, sensorineural hearing loss, and abnormalities of thyroid, pancreas, and liver. In the current study, we conducted an extensive literature review with an emphasis on the variable clinical spectrum and genotypes in patients. Additionally, we reported on a new case with a previously documented mutation. A bioinformatics analysis of the various PTRH2 gene variants was also carried out from a structural perspective. It appears that the most common clinical characteristics among all patients include motor delay (92%), neuropathy (90%), distal weakness (86.4%), intellectual disability (84%), hearing impairment (80%), ataxia (79%), and deformity of head and face (~70%). The less common characteristics include hand deformity (64%), cerebellar atrophy/hypoplasia (47%), and pancreatic abnormality (35%), while the least common appear to be diabetes mellitus (~30%), liver abnormality (~22%), and hypothyroidism (16%). Three missense mutations were revealed in the PTRH2 gene, the most common one being Q85P, which was shared by four different Arab communities and was presented in our new case. Moreover, four different nonsense mutations in the PTRH2 gene were detected. It may be concluded that disease severity depends on the PTRH2 gene variant, as most of the clinical features are manifested by nonsense mutations, while only the common features are presented by missense mutations. A bioinformatics analysis of the various PTRH2 gene variants also suggested the mutations to be deleterious, as they seem to disrupt the structural confirmation of the enzyme, leading to loss of stability and functionality.

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Section: Discussionmentioning

confidence: 99%

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

Sharkia

Jain

Mahajnah

et al. 2023

Genes

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“…3) Studies conducted in the Middle Eastern and Asia region reported varying genetic mutations. 1,[4][5][6] We presented 2 siblings diagnosed with IMNEPD with phenotype and genotype description.…”

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confidence: 99%

“…Diverse types of mutations were discovered having the missense mutation the commonest [ 3 ]. Studies conducted in the Middle Eastern and Asia region reported varying genetic mutations [ 1 , 4 - 6 ]. We presented 2 siblings diagnosed with IMNEPD with phenotype and genotype description.…”

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confidence: 99%

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

Bubshait¹

2023

Clin Exp Pediatr

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The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

et al. 2022

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A novel PTRH2 missense mutation causing IMNEPD: a case report

Cited by 5 publications

References 19 publications

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

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

The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

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