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

ABSTRACT: 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 and were found to harbor an additional novel heterozygous deleterious iodothyronine deiodinase 1 (DIO1) mutation (c.395G>A). In the context of L-T4 replacement, the decreased D1 activity results in abnormal thyroid hormone metabolism with decreased triiodothyronine (T3) generation from L-T4 and may result in decreased T3 bioavailability during critical stages of development.

SUBMITTER: Furman A 

PROVIDER: S-EPMC8917882 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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

Furman Aryel A   Hannoush Zeina Z   Echegoyen Francisco Barrera FB   Dumitrescu Alexandra A   Refetoff Samuel S   Weiss Roy E RE  

Thyroid : official journal of the American Thyroid Association 20210716 10

A family with congenital hypothyroidism was identified with two novel deleterious compound heterozygous thyroid peroxidase (<i>TPO</i>) mutations (<i>c.962C>A</i>, and <i>c.1577C>T</i>). 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 and were found to harbor an additional novel heterozygous deleter  ...[more]

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