A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 8, 2001, Pages 3962-3967

  Congdon, Tamara ^a   Nguyen, Lynda Q ^a   Nogueira, Celia R ^b,c   Habiby, Reema L ^a   Medeiros Neto, Geraldo ^b   Kopp, Peter ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GLUTAMINE; GUANINE NUCLEOTIDE BINDING PROTEIN; LUCIFERASE; PROLINE; PROTEIN SUBUNIT; RECEPTOR SUBUNIT; THYROID PEROXIDASE; THYROTROPIN; THYROTROPIN RECEPTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX8; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANTIBODY DETECTION; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; ECHOGRAPHY; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HORMONE RECEPTOR INTERACTION; HUMAN; MOTHER CHILD RELATION; PATHOGENESIS; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; REPORTER GENE; THYROID CELL; THYROID DISEASE; THYROID DYSGENESIS; THYROID SCINTISCANNING;

EID: 0034885770     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.8.7765     Document Type: Article

References (24)

1. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world
2. Pendred's syndrome and genetic defects in thyroid hormone synthesis
3. Developmental abnormalities of the thyroid
4. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
5. Follicular cells of the thyroid gland require Pax8 gene function
6. Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters
7. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
8. A mouse model for hereditary thyroid dysgenesis and cleft palate
9. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia
10. Recombination and mutagenesis of DNA sequences using PCR
11. Cell-type-specific expression of the rat thyroperoxidase promoter indicates common mechanisms for thyroid-specific gene expression
12. Panning transfected cells for electrophysiological studies
13. The paired box encodes a second DNA-binding domain in the paired homeo domain protein
14. Pax genes and their roles in cell differentiation and development
15. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland
16. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
17. Pax genes in development
18. Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities
19. Independent regulation of the two Pax5 alleles during B-cell development
20. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain DNA binding
21. Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes
22. Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism
23. Resistance to TSH
24. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland