Severe testotoxicosis phenotype associated with Asp578→Tyr mutation of the lutrophin/choriogonadotrophin receptor gene

Journal of Medical Genetics

Volumn 35, Issue 4, 1998, Pages 340-341

  Müller, Jørn ^a   Gondos, Bernard ^b   Kosugi, Shinji ^c   Mori, Toru ^c   Shenker, Andrew ^d  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b SANSUM DIABETES RESEARCH INSTITUTE   (United States)

^c KYOTO UNIVERSITY   (Japan)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Genotype phenotype correlation; Lutrophin choriogonadotrophin receptor; Precocious puberty; Testotoxicosis

Indexed keywords

ASPARTIC ACID; CHORIONIC GONADOTROPIN RECEPTOR; LUTEINIZING HORMONE RECEPTOR; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INFANT; LEYDIG CELL; MALE; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 0031976756     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.4.340     Document Type: Article

References (18)

1. Holland FJ. Gonadotropin-independent precocious puberty. Endocrinol Metab Clin North Am 1991;20:191-210.
2. Shenker A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993;365:652-4.
3. Kremer H, Mariman E, Otten BJ, et al. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet 1993;2:1779-83.
4. Laue L, Chan WY, Hsueh AJW, et al. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA 1995;92:1906-10.
5. Evans BAJ, Bowen DJ, Smith PJ, Clayton PE, Gregory JW. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. J Med Genet 1996;33:143-7.
6. Themmen APN, Brunner HG. Luteinizing hormone receptor mutations and sex differentiation. Eur J Endocrinol 1996;134:533-40.
7. Babovic-Vuksanovic D, Donaldson MD, Gibson NA, Wallace AM. Hazards of ketoconozole therapy in testotoxicosis. Acta Paediatr Scand 1994;83:994-7.
8. Clark PA, Clarke WL. Testotoxicosis: an unusual presentation and novel gene mutation. Clin Pediatr 1995;34:271-4.
9. Schedewie HK, Reiter EO, Beitins IZ, et al. Testicular Leydig cell hyperplasia as a cause of familial sexual precocity. J Clin Endocrinol Metab 1981;52:271-8.
10. Gondos B, Egli CA, Rosenthal SM, Grumbach MM. Testicular changes in gonadotropin-independent familial male sexual precocity. Arch Pathol Lab Med 1985;109:990-5.
11. 578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor. J Biol Chem 1996;271:31813-17.
12. Lin Z, Shenker A, Pearlstein R. A model of the lutropin/choriogonadotropin receptor: insights into the structural and functional effects of constitutively activating mutations. Protein Eng 1997;10:501-10.
13. Shenker A. G protein-coupled receptor structure and function: the impact of disease-causing mutations. Baillieres Clin Endocrinol Metab 1995;9:427-51.
14. Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol 1991;111:614-23.
15. Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 1995;36:1934-42.
16. Rao VR, Cohen GB, Oprian DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 1994;367:639-42.
17. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G. Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab 1995;80:2577-85.
18. Tonacchera M, Van Sande J, Cetani F, et al. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 1996;81:547-54.