Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD
2016
Infantile-onset multisystem neurologic, endocrine, and
pancreatic disease(IMNEPD) has been recently linked to biallelic mutation of the
peptidyl-tRNA hydrolase2 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 weaknessand 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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