Open AccessA Novel Mutation (S54C) of the <b><i>PAX8</i></b> Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals
Author(s) -
Panudda Srichomkwun,
Osnat Admoni,
Samuel Refetoff,
Liat de Vries
Publication year - 2016
Publication title -
hormone research in paediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.816
H-Index - 89
eISSN - 1663-2826
pISSN - 1663-2818
DOI - 10.1159/000445891
Subject(s) - medicine , thyroid , endocrinology , pax8 , congenital hypothyroidism , biology , gene , genetics , transcription factor
Congenital hypothyroidism (CH) is a common endocrine disorder in newborns. The cause of CH is thyroid dysgenesis in 80-85% of patients. Paired box gene 8 (PAX8) is a thyroid transcription factor that plays an important role in thyroid organogenesis and development. To date, 22 different PAX8 gene mutations have been reported.