Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
Orphanet J Rare Dis
; 11(1): 52, 2016 04 29.
Article
em En
| MEDLINE
| ID: mdl-27129381
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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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pancreatopatias
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Hidrolases de Éster Carboxílico
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Regulação Enzimológica da Expressão Gênica
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Proteínas Mitocondriais
Limite:
Humans
Idioma:
En
Revista:
Orphanet J Rare Dis
Ano de publicação:
2016
Tipo de documento:
Article