Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

doi:10.1210/jcem.84.3.5541

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Article

Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

The Journal of clinical endocrinology and metabolism - 1 Mar 1999

Pannain S, Weiss R E, Jackson C E, Dian D, Beck J C, Sheffield V C, Cox N, Refetoff S

Abstract excerpt

Approximately 10% of newborns with congenital hypothyroidism are unable to convert iodide into organic iodine. This iodide organification defect has a prevalence of 1 in 40,000 newborns and may be caused by defects in the thyroid peroxidase enzyme (TPO), the hydrogen peroxide-generating system, the TPO substrate thyroglobulin, or inhibitors of TPO. We identified a high incidence of severe hypothyroidism due to a...

Topics

Child, Preschool
Christianity
Chromosome Mapping
Congenital Hypothyroidism
Consanguinity
Ethnicity
Female
Genetic Linkage
Goiter
Haplotypes
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hypothyroidism

Intellectual Disability

Iodide Peroxidase

Male

Mutation

Pedigree

Source

Open in PubMed

Identifiers

PMID: 10084596
DOI: 10.1210/jcem.84.3.5541

Genes

Variants

Provenance

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