Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency
- PMID:2401711
- DOI: 10.1210/jcem-71-4-792
Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency
Abstract
Five families with familial inherited TSH deficiency, reported to date, were examined for the TSH beta gene at the nucleotide level. The first family carries a single base substitution in the 29th codon which lies in the so-called CAGYC region; GCA (glycine) is replaced by AGA (arginine). This substitution induces conformational changes of the beta-polypeptide which make it unable to associate with the alpha-subunit. This mutation generates a new cleavage site for a restriction endonuclease MaeI, a new marker that can be used for DNA diagnosis. The second and third families were found to carry the same nucleotide substitution. Also, all three families were associated with an additional single base substitution in intron 2 as a polymorphic change, suggesting that these three families may have originated from the same single founder from Shikoku Island in Japan. The nucleotide sequence from the fourth and fifth families showed no alterations in the TSH beta gene from the about -200 basepair up-stream region to the polyadenylation site.
Comment in
- Genes and endocrine maladies.Chin WW.Chin WW.J Clin Endocrinol Metab. 1990 Oct;71(4):790-1. doi: 10.1210/jcem-71-4-790.J Clin Endocrinol Metab. 1990.PMID:2401710No abstract available.
Similar articles
- Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K.Hayashizaki Y, et al.EMBO J. 1989 Aug;8(8):2291-6. doi: 10.1002/j.1460-2075.1989.tb08355.x.EMBO J. 1989.PMID:2792087Free PMC article.
- Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.Deladoëy J, Vuissoz JM, Domené HM, Malik N, Gruneiro-Papendieck L, Chiesa A, Heinrich JJ, Mullis PE.Deladoëy J, et al.Thyroid. 2003 Jun;13(6):553-9. doi: 10.1089/105072503322238818.Thyroid. 2003.PMID:12930599
- Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.Doeker BM, Pfäffle RW, Pohlenz J, Andler W.Doeker BM, et al.J Clin Endocrinol Metab. 1998 May;83(5):1762-5. doi: 10.1210/jcem.83.5.4780.J Clin Endocrinol Metab. 1998.PMID:9589689
- Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.Mori R, Sawai T, Kinoshita E, Baba T, Matsumoto T, Yoshimoto M, Tsuji Y, Satake Y, Sawada K.Mori R, et al.Jinrui Idengaku Zasshi. 1991 Dec;36(4):313-6. doi: 10.1007/BF01883604.Jinrui Idengaku Zasshi. 1991.PMID:1811097
- [Molecular genetics of congenital isolated thyrotropin deficiency].Miyai K.Miyai K.Nihon Rinsho. 1994 Apr;52(4):948-55.Nihon Rinsho. 1994.PMID:8196185Review.Japanese.
Cited by
- Isolated TSH deficiency with a partially empty sella.Peacey SR, Price A, Giles MA, Weetman AP.Peacey SR, et al.J Endocrinol Invest. 1995 Oct;18(9):729-33. doi: 10.1007/BF03349796.J Endocrinol Invest. 1995.PMID:8719305
- Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S.Pohlenz J, et al.J Clin Invest. 1998 Mar 1;101(5):1028-35. doi: 10.1172/JCI1504.J Clin Invest. 1998.PMID:9486973Free PMC article.
- A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S.Pappa T, et al.Thyroid. 2015 Aug;25(8):869-76. doi: 10.1089/thy.2015.0096. Epub 2015 Jun 15.Thyroid. 2015.PMID:25950606Free PMC article.
- Genetic aspects of central hypothyroidism.Collu R.Collu R.J Endocrinol Invest. 2000 Feb;23(2):125-34. doi: 10.1007/BF03343692.J Endocrinol Invest. 2000.PMID:10800768Review.
- Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.Kleinau G, Kalveram L, Köhrle J, Szkudlinski M, Schomburg L, Biebermann H, Grüters-Kieslich A.Kleinau G, et al.Mol Endocrinol. 2016 Sep;30(9):954-64. doi: 10.1210/me.2016-1065. Epub 2016 Jul 7.Mol Endocrinol. 2016.PMID:27387040Free PMC article.Review.
Publication types
MeSH terms
Substances
Related information
LinkOut - more resources
Full Text Sources
Medical
Research Materials
Miscellaneous