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

Hakan Cangül | Zendy; Murat Doğan | Zendy; Duran Üstek | Zendy

Open Access

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

Author(s) -

Hakan Cangül,

Murat Doğan,

Duran Üstek

Publication year - 2015

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.1920

Subject(s) - genetics , nonsense mutation , thyroid peroxidase , mutation , sanger sequencing , missense mutation , locus (genetics) , medicine , genetic linkage , haplotype , gene mutation , genotype , congenital hypothyroidism , biology , gene , thyroid

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.

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