A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene

Thyroid

Volumn 11, Issue 10, 2001, Pages 977-980

  Bretones, P ^a   Duprez, L ^b   Parma, J ^b   David, M ^a   Vassart, G ^b   Rodien, P ^c  

^a CENTRE HOSPITALIER LYON SUD   (France)

^b UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^c ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN RECEPTOR;

AGENESIS; ARTICLE; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; ECHOGRAPHY; ECTOPIC THYROID GLAND; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOPLASIA; MALE; PRIORITY JOURNAL; THYROID SCINTISCANNING;

CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; RECEPTORS, THYROTROPIN; THYROID GLAND;

EID: 0034751909     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072501753211064     Document Type: Article

References (32)

1. Intellectual development at age 12 years of children with congenital hypothyroidism diagnosed by neonatal screening
2. Correlation of cognitive test scores and adequacy of treatment in adolescents with congenital hypothyroidism
3. Outcome of severe congenital hypothyroidism: Closing the development gap with early high dose levothyroxine treatment
4. Thyroid disorders
5. Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update)
6. Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism
7. PAX 8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
8. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX 8
9. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis: Cleft palate and choanal atresia
10. Follicular cells of the thyroid gland require PAX 8 gene function
11. A mouse model for hereditary thyroid dysgenesis and cleft palate
12. Inherited primary hypothyroidism in mice
13. Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse
14. Brief report: Resistance to thyrotropin receptor caused by mutations in the thyrotropin-receptor gene
15. Four families with loss of function mutations of the thyrotropin receptor
16. TSH receptor mutations and thyroid disease
17. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
18. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene
19. Mutations of the human thyrotropin receptor gene causing thyroid hyperplasia and persistent congenital hypothyroidism
20. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
21. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities?
22. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor
23. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene
24. Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene
25. Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism
26. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
27. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
28. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
29. -symporter
30. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas
31. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family
32. Mutations in the Thox2 gene in patients with congenital hypothyroidism due to iodide organification defects