dc.contributor.author
Monti, Sara
dc.contributor.author
Nicoletti, Annalisa
dc.contributor.author
Cantasano, Antonella
dc.contributor.author
Krude, Heiko
dc.contributor.author
Cassio, Alessandra
dc.date.accessioned
2018-06-08T04:02:42Z
dc.date.available
2015-07-13T10:44:08.236Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/16475
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-20656
dc.description.abstract
Background A highly variable phenotype characterized by thyroid, respiratory
and neurological defects has been reported in an already established group of
disorders namely NKX2.1-related disorders. We describe here the case of an
infant with a novel mutation of the NKX2.1 gene characterized by mild clinical
presentation. Aim of the study was to elucidate the genotype-phenotype
correlation in our patient. Methods We performed genetic analysis of the
NKX2.1 gene in an infant with no neonatal respiratory distress and near-normal
results at neonatal screening test for congenital hypothyroidism,
choreoathetosis, ataxia and delayed independent walking. Results A novel
mutation of the NKX2.1 gene has been identified, that is responsible for a
mild framework of congenital hypothyroidism and neurological symptoms.
Conclusions The frequency of congenital hypothyroidism cases associated with
NKX2.1 mutations is expected to be higher in a subgroup of patients, selected
according to the neurological presentation. In these patients the analysis of
NKX2.1 mutational status is recommended.
en
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject
NKX2.1-related disorders
dc.subject
Syndromic hypothyroidism
dc.subject
Neonatal screening
dc.subject
Choreoathetosis
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit
dc.title
NKX2.1-Related Disorders
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation
Italian Journal of Pediatrics. -41 (2015), 1, Artikel Nr. 45
dc.title.subtitle
a novel mutation with mild clinical presentation
dcterms.bibliographicCitation.doi
10.1186/s13052-015-0150-6
dcterms.bibliographicCitation.url
http://www.ijponline.net/content/41/1/45
refubium.affiliation
Charité - Universitätsmedizin Berlin
de
refubium.mycore.fudocsId
FUDOCS_document_000000022815
refubium.note.author
Der Artikel wurde in einer Open-access-Zeitschrift publiziert.
refubium.resourceType.isindependentpub
no
refubium.mycore.derivateId
FUDOCS_derivate_000000005192
dcterms.accessRights.openaire
open access