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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
- Source :
-
Thyroid : official journal of the American Thyroid Association [Thyroid] 2022 Aug; Vol. 32 (8), pp. 1000-1002. Date of Electronic Publication: 2022 Jul 19. - Publication Year :
- 2022
-
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.
Details
- Language :
- English
- ISSN :
- 1557-9077
- Volume :
- 32
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Thyroid : official journal of the American Thyroid Association
- Publication Type :
- Academic Journal
- Accession number :
- 35611983
- Full Text :
- https://doi.org/10.1089/thy.2022.0117