Work

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism

Year: 2022

Type: article

Abstract: 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 of the available databases [MAFgnomAD = 0, dbSNP (−)], and the amino acid leucine at position 37 is highly conserved across species. Establishing the molecular diagnosis expands our knowledge on the cause of thyroid dysgenesis and provides a guide for counseling and early treatment.

Source: Thyroid

DOI: 10.1089/thy.2022.0117

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

Institutions: University of Chicago, Canterbury District Health Board, University of Otago

Language: English

Topic: Thyroid Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of Diabetes and Digestive and Kidney Diseases