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


CANGÜL H., Dogan M. , ÜSTEK D.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.7, ss.323-328, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 7 Konu: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/jcrpe.1920
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayıları: ss.323-328

Özet

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.