Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
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ABSTRACT:
SUBMITTER: Watanabe Y
PROVIDER: S-EPMC6389765 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Watanabe Yui Y Bruellman Ryan J RJ Ebrhim Reham S RS Abdullah Mohamed A MA Dumitrescu Alexandra M AM Refetoff Samuel S Weiss Roy E RE
Thyroid : official journal of the American Thyroid Association 20181218 2
Dyshormonogenic congenital hypothyroidism (CH) generally results from biallelic defects in thyroid hormone synthesis genes. Whole exome sequencing allows easier identification of multiple gene defects. Two Sudanese families with CH resulting from oligogenic defects identified by whole exome sequencing are presented. In family 1, the proposita with CH and goiter was heterozygous for three TPO, one TG, and one DUOX2 mutations, including three novel variants inherited from both parents. In family 2 ...[more]
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