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Article

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.

Thyroid : official journal of the American Thyroid Association - 1 Aug 2022

França Monica Malheiros, Reeve Lucy, Dumitrescu Alexandra M, de Bock Martin, Refetoff Samuel

Abstract excerpt

We report a 10-month-old girl with familial congenital hypothyroidism harboring a novel heterozygous pathogenic variant in the paired DNA-binding domain of PAX8 (NM_003466:c.110T>C:p.Leu37Pro). Genotype-phenotype correlation revealed complete penetrance of this PAX8 defect in this family, in which the affected father and half-brother carry the same mutation. This deleterious variant has not been reported in any...

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Identifiers

PMID: 35611983
DOI: 10.1089/thy.2022.0117
PMCID: PMC9419960

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