Genes Evaluated
APC, CHEK2, DICER1, DUOX2, DUOXA2, FOXE1, GLIS3, GNAS, HESX1, IGSF1, IRS4, IYD, KDM6A, KMT2D, NKX2-1, NKX2-5, OTX2, PAX8,POU1 F1, PRKAR1A, PROP1, PTEN, RET, SLC16A2, SLC26A4, SLC26A7, SLCSAS, TBL 1X, TG, THRA, THRB, TP53, TPO, TRHR, TSHB,TSHR, UBR1, WRN.
Comprehensive Approach
These genes cover a range of thyroid disorders including congenital hypothyroidism, thyroid hormone synthesis and resistance disorders, and increased risk of thyroid cancers. Identifying mutations in these genes can aid in early diagnosis and management of thyroid conditions, guiding treatments such as hormone replacement therapy, surgery, and targeted cancer therapies.
Gene Associations and Corresponding Thyroid Disorders:
- APC: Familial Adenomatous Polyposis (FAP) which can include thyroid cancer.
- CHEK2: Increased risk of various cancers including thyroid cancer.
- DICER1: DICER 1 syndrome, which can include thyroid tumors.
- DUOX2, DUOXA2: Congenital hypothyroidism due to defects in hydrogen peroxide generation required for thyroid hormone synthesis.
- FOXE1: Bamforth-Lazarus syndrome, congenital hypothyroidism with cleft palate.
- GLISJ: Neonatal diabetes and congenital hypothyroidism.
- GNAS: McCune-Albright syndrome, associated with hyperthyroidism.
- HESX1: Septo-optic dysplasia which can involve hypopituitarism affecting thyroid function.
- IGSF1: Central hypothyroidism and testicular enlargement.
- IRS4: Central hypothyroidism.
- IYD: Defects in thyroid hormone synthesis due to iodotyrosine deiodinase deficiency.
- KDM6A: Kabuki syndrome which can include hypothyroidism.
- KMT2D: Kabuki syndrome, associated with hypothyroidism.
- NKX2-1: Congenital hypothyroidism, benign hereditary chorea, and lung problems.
- NKX2-5: Congenital heart defects and possible thyroid dysgenesis.
- OTX2: Syndromic pituitary hormone deficiency, including central hypothyroidism.
- PAXS: Congenital hypothyroidism due to thyroid dysgenesis.
- POU1 F1 (PIT1): Combined pituitary hormone deficiency including growth hormone, prolactin, and TSH deficiencies.
- PRKAR1 A: Carney complex which can include thyroid tumors.
- PROP1: Combined pituitary hormone deficiency including TSH.
- PTEN: Cowden syndrome, increased risk of thyroid cancer.
- RET: Multiple Endocrine Neoplasia Type 2 (MEN2), associated with medullary thyroid carcinoma.
- SLC16A2: Allan-Herndon-Dudley syndrome, associated with thyroid hormone transport defects.
- SLC26A4: Pendred syndrome, congenital hypothyroidism with sensorineural hearing loss.
- SLC26A7: Possible involvement in thyroid hormone transport and metabolism.
- SLCSAS: Congenital hypothyroidism due to defects in the sodium/iodide symporter.
- TBL 1 X: Thyroid hormone resistance, associated with hearing loss.
- TG: Thyroglobulin gene mutations causing congenital hypothyroidism.
- THRA: Thyroid hormone resistance, alpha form.
- THRB: Thyroid hormone resistance, beta form.
- TPSJ: Li-Fraumeni syndrome, increased risk of thyroid cancer.
- TPO: Thyroid peroxidase deficiency causing congenital hypothyroidism.
- TRHR: Central hypothyroidism due to TRH receptor mutations.
- TSHB: Central hypothyroidism due to TSH beta subunit mutations.
- TSHR: Hyperthyroidism or hypothyroidism due to mutations in the TSH receptor.
- UBR1: Johanson-Blizzard syndrome, associated with exocrine pancreatic insufficiency and congenital hypothyroidism.
- WRN: Werner syndrome, a progeroid syndrome with possible thyroid dysfunction.