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.
Keywords
Publication details
- DOI
- 10.5001/omj.2024.08
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Isa, H. M., Khalaf, S. D., Janahi, S., Naser, M. M., Al Hamad, N., Alhaddar, H., & Busehail, M. (2024). A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient. Oman Medical Journal. https://doi.org/10.5001/omj.2024.08
MLA 9
Isa, Hasan M., et al. "A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient." Oman Medical Journal, 2024. https://doi.org/10.5001/omj.2024.08.
Chicago (author–date)
Isa, Hasan M., Sara D. Khalaf, Sara Janahi, Mohamed M. Naser, Noor Al Hamad, Hasan Alhaddar, and Maryam Busehail. 2024. "A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient." Oman Medical Journal. https://doi.org/10.5001/omj.2024.08.
Harvard
Isa, H. M., Khalaf, S. D., Janahi, S., Naser, M. M., Al Hamad, N., Alhaddar, H. and Busehail, M. (2024) 'A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient', Oman Medical Journal. doi:10.5001/omj.2024.08.
Vancouver
Isa HM, Khalaf SD, Janahi S, Naser MM, Al Hamad N, Alhaddar H, et al. A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient. Oman Medical Journal. 2024. doi:10.5001/omj.2024.08
IEEE
H. M. Isa, S. D. Khalaf, S. Janahi, M. M. Naser, N. Al Hamad, H. Alhaddar, and M. Busehail, "A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient," Oman Medical Journal, 2024, doi: 10.5001/omj.2024.08.