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.
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation / Monti, Sara; Nicoletti, Annalisa; Cantasano, Antonella; Krude, H; Cassio, Alessandra. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - STAMPA. - 41:(2015), pp. 45.1-45.5. [10.1186/s13052-015-0150-6]
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
MONTI, SARA;NICOLETTI, ANNALISA;CANTASANO, ANTONELLA;CASSIO, ALESSANDRA
2015
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.File | Dimensione | Formato | |
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