AI Article Synopsis
- IMNEPD is a rare genetic disorder linked to mutations in the PTRH2 gene, causing various neurological and endocrine problems.
- Initial cases showed symptoms like microcephaly, intellectual disability, and muscle weakness, along with issues in thyroid, pancreas, and liver functions.
- This report expands the understanding of IMNEPD by presenting five new patients with a different PTRH2 mutation, highlighting the diversity of symptoms and aiming for better diagnosis of the condition.
Article Abstract
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685 | PMC |
| http://dx.doi.org/10.1186/s13023-016-0433-z | DOI Listing |
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