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- Title
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
- Authors
Picker-Minh, Sylvie; Mignot, Cyril; Doummar, Diane; Hashem, Mais; Faqeih, Eissa; Josset, Patrice; Dubern, Béatrice; Alkuraya, Fowzan S.; Kraemer, Nadine; Kaindl, Angela M.
- 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.
- Subjects
PANCREATIC diseases; TRANSFER RNA; HYDROLASES; GENETIC mutation; ATAXIA; PROTEIN metabolism; COMPARATIVE studies; ESTERASES; GENEALOGY; GENES; GENETIC techniques; RESEARCH methodology; MEDICAL cooperation; PROTEINS; RESEARCH; EVALUATION research
- Publication
Orphanet Journal of Rare Diseases, 2016, Vol 11, p1
- ISSN
1750-1172
- Publication type
letter
- DOI
10.1186/s13023-016-0433-z