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

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 (...

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Veröffentlicht in:Thyroid (New York, N.Y.) N.Y.), 2021-10, Vol.31 (10), p.1589-1591
Hauptverfasser: Furman, Aryel, Hannoush, Zeina, Echegoyen, Francisco Barrera, Dumitrescu, Alexandra, Refetoff, Samuel, Weiss, Roy E
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Sprache:eng
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Zusammenfassung: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.
ISSN:1050-7256
1557-9077
DOI:10.1089/thy.2021.0210