A novel PTRH2 gene mutation causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease in a Bahraini patient.
المصدر
Oman Medical Journal, v. 39, no. 1, e599 p. [1-8].
الناشر
Oman Medical Specialty Board.
العنوان الأصلي
A novel PTRH2 gene mutation causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease in a Bahraini patient.
الملخص الإنجليزي
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.
