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Article

Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Oct 2021

Furman Aryel, Hannoush Zeina, Echegoyen Francisco Barrera, Dumitrescu Alexandra, Refetoff Samuel, Weiss Roy E

Abstract excerpt

A family with congenital hypothyroidism was identified with two novel deleterious compound heterozygous thyroid peroxidase (TPO) mutations (c.962C>A, and c.1577C>T). Serum thyroid tests showed higher-than-expected serum-free thyroxine (T4) relative to TT3, while reverse triiodothyronine (rT3) was also elevated. Two siblings manifested a more severe phenotype of developmental delay compared with another sibling...

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Identifiers

PMID: 34128397
DOI: 10.1089/thy.2021.0210
PMCID: PMC8917882

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