A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Clinical Endocrinology

Volumn 74, Issue 4, 2011, Pages 533-535

  Citterio, Cintia E ^a   Coutant, Regis ^b   Rouleau, Stephanie ^b   Miralles García, José M ^c   Gonzalez Sarmiento, Rogelio ^c   Rivolta, Carina M ^a,c   Targovnik, Héctor M ^a,c  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; CYTOSINE; THYMINE; THYROGLOBULIN; THYROGLOBULIN ANTIBODY; THYROTROPIN; THYROTROPIN RECEPTOR ANTIBODY; THYROXINE;

ADULT; APGAR SCORE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CONGENITAL HYPOTHYROIDISM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GESTATIONAL AGE; GOITER; HETEROZYGOSITY; HUMAN; LETTER; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON;

ADULT; FEMALE; GOITER; HETEROZYGOTE; HUMANS; HYPOTHYROIDISM; MUTATION; THYROGLOBULIN;

EID: 79952414000     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2010.03932.x     Document Type: Letter

References (5)

1. Targovnik, H.M., Esperante, S.A., &, Rivolta, C.M., (2010) Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Molecular and Cellular Endocrinology, 322, 44-55.
2. Targovnik, H.M., Souchon, P.F., Machiavelli, G.A., et al. (2010) Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene. Clinical Endocrinology, 72, 716-718.
3. Caron, P., Moya, C.M., Malet, D., et al. (2003) Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G>A[R2223H]) resulting in fetal goitrous hypothyroidism. Journal of Clinical Endocrinology and Metabolism, 88, 3546-3553. (Pubitemid 37034493)
4. Ranzini, A.C., Ananth, C.V., Smulian, J.C., et al. (2001) Ultrasonography of the fetal thyroid: nomograms based on biparietal diameter and gestational age. Journal of Ultrasound in Medicine, 20, 613-617. (Pubitemid 32499944)
5. Ribault, V., Castanet, M., Bertrand, A.-M., et al. (2009) Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hypothyroidism in 12 cases. Journal of Clinical Endocrinology and Metabolism, 94, 3731-3739.