dc.contributor.author
Picker-Minh, Sylvie
dc.contributor.author
Mignot, Cyril
dc.contributor.author
Doummar, Diane
dc.contributor.author
Hashem, Mais
dc.contributor.author
Faqeih, Eissa
dc.contributor.author
Josset, Patrice
dc.contributor.author
Dubern, Beatrice
dc.contributor.author
Alkuraya, Fowzan S.
dc.contributor.author
Kraemer, Nadine
dc.contributor.author
Kaindl, Angela M.
dc.date.accessioned
2018-06-08T04:05:41Z
dc.date.available
2016-05-30T09:26:08.496Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/16564
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-20745
dc.description.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.
en
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject
Peptidyl-tRNA hydrolase 2
dc.subject
Intellectual deficit
dc.subject
Sensorineural deafness
dc.subject
Hepatosteatosis
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit
dc.title
Phenotype variability of infantile-onset multisystem neurologic, endocrine,
and pancreatic disease IMNEPD
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation
Orphanet Journal of Rare Diseases. - 11 (2016), Artike Nr. 52
dcterms.bibliographicCitation.doi
10.1186/s13023-016-0433-z
dcterms.bibliographicCitation.url
http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0433-z
refubium.affiliation
Charité - Universitätsmedizin Berlin
de
refubium.mycore.fudocsId
FUDOCS_document_000000024630
refubium.note.author
Der Artikel wurde in einer Open-Access-Zeitschrift publiziert.
refubium.resourceType.isindependentpub
no
refubium.mycore.derivateId
FUDOCS_derivate_000000006476
dcterms.accessRights.openaire
open access