The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis
Arch. endocrinol. metab. (Online)
;
59(6): 562-567, Dec. 2015. tab, graf
Article
Dans Anglais
| LILACS
| ID: lil-767919
ABSTRACT
Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Polymorphisme génétique
/
Glande thyroide
/
Facteurs de transcription
/
Protéines à homéodomaine
/
Dysgénésie thyroïdienne
Type d'étude:
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Nouveau-né
langue:
Anglais
Texte intégral:
Arch. endocrinol. metab. (Online)
Thème du journal:
Endocrinologie
/
Métabolisme
Année:
2015
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade Federal da Bahia/BR
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