A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

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CANGÜL H., Dogan M., ÜSTEK D.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.7, no.4, pp.323-328, 2015 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 7 Issue: 4
• Publication Date: 2015
• Doi Number: 10.4274/jcrpe.1920
• Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
• Page Numbers: pp.323-328
• Van Yüzüncü Yıl University Affiliated: Yes

Abstract

Objective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine the genetic basis of CH in two affected children coming from a consanguineous family.