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NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A - Ital J Pediatr (2015)

Bottom Line: 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.In these patients the analysis of NKX2.1 mutational status is recommended.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy. saramonti1984@gmail.com.

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.

No MeSH data available.


Related in: MedlinePlus

Chromatograms obtained from the genetic analysis of the patient and of his parents. Family tree with the corresponding chromatograms of NKX2.1 exon 2 showing c.390C > G:p. (Tyr130Term) mutation (arrow): the father and mother are homozygous for the wild-type nucleotide (upper panels, sense strand), the proband is heterozygous for the mutation (bottom panels, sense and antisense strands)
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Fig1: Chromatograms obtained from the genetic analysis of the patient and of his parents. Family tree with the corresponding chromatograms of NKX2.1 exon 2 showing c.390C > G:p. (Tyr130Term) mutation (arrow): the father and mother are homozygous for the wild-type nucleotide (upper panels, sense strand), the proband is heterozygous for the mutation (bottom panels, sense and antisense strands)

Mentions: The mutation was not detected in the parents, as shown in Fig. 1. Upon administration of the replacement therapy, the patient showed a progressive improvement in neuromotor and growth development. Of note, the height increased from −0,63 SDS to −0,12 SDS after one year of treatment.Fig. 1


NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

Monti S, Nicoletti A, Cantasano A, Krude H, Cassio A - Ital J Pediatr (2015)

Chromatograms obtained from the genetic analysis of the patient and of his parents. Family tree with the corresponding chromatograms of NKX2.1 exon 2 showing c.390C > G:p. (Tyr130Term) mutation (arrow): the father and mother are homozygous for the wild-type nucleotide (upper panels, sense strand), the proband is heterozygous for the mutation (bottom panels, sense and antisense strands)
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4477322&req=5

Fig1: Chromatograms obtained from the genetic analysis of the patient and of his parents. Family tree with the corresponding chromatograms of NKX2.1 exon 2 showing c.390C > G:p. (Tyr130Term) mutation (arrow): the father and mother are homozygous for the wild-type nucleotide (upper panels, sense strand), the proband is heterozygous for the mutation (bottom panels, sense and antisense strands)
Mentions: The mutation was not detected in the parents, as shown in Fig. 1. Upon administration of the replacement therapy, the patient showed a progressive improvement in neuromotor and growth development. Of note, the height increased from −0,63 SDS to −0,12 SDS after one year of treatment.Fig. 1

Bottom Line: 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.In these patients the analysis of NKX2.1 mutational status is recommended.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical and Surgical Sciences, Pediatric Unit, University of Bologna, Bologna, Italy. saramonti1984@gmail.com.

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.

No MeSH data available.


Related in: MedlinePlus