Abstract
Context: Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000–4000 newborns. In 80–85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland, all conditions indicated as “thyroid dysgenesis” (TD). A higher prevalence of congenital heart diseases has been documented in children with CH compared to the general population. This association suggests a possible pathogenic role of genes involved in both heart and thyroid development. Among these, it can be included Isl1, a transcription factor containing a LIM homeodomain that is expressed in both thyroid and heart during morphogenesis. Objective: In the present study, we investigate the role of ISL1 in the pathogenesis of TD. Settings and patients: By single stranded conformational polymorphism, we screened for mutations the entire ISL1 coding sequence in 96 patients with TD and in 96 normal controls. Results: No mutations have been found in patients and controls. Conclusion: Our data indicate that, despite the relevant role of ISL1 in thyroid and heart morphogenesis, mutations in its coding region are not associated with TD in our group of patients.
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Ferrara, A.M., Rossi, G., Zampella, E. et al. Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis. J Endocrinol Invest 34, e149–e152 (2011). https://doi.org/10.3275/7331
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DOI: https://doi.org/10.3275/7331