Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a japanese boy with peripheral precocious puberty

Endocrine Journal

Volumn 57, Issue 12, 2010, Pages 1055-1060

  Nagasaki, Keisuke ^a   Katsumata, Noriyuki ^b   Ogawa, Yohei ^a   Kikuchi, Toru ^a   Uchiyama, Makoto ^a  

^a NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Activating mutation; Hypothalamo pituitary gonadal axis; LHCGR gene; Peripheral precocious puberty; Testotoxicosis

Indexed keywords

CHORIONIC GONADOTROPIN; CYCLIC AMP; CYSTEINE; DNA; G PROTEIN COUPLED RECEPTOR; GONADORELIN; GONADORELIN DERIVATIVE; GONADOTROPIN; LUTEINIZING HORMONE CHORIONIC GONADOTROPIN RECEPTOR; MEDROXYPROGESTERONE ACETATE; TESTOSTERONE; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BODY HEIGHT; CASE REPORT; CELL STRAIN COS1; CHILD; DNA SEQUENCE; FAMILY HISTORY; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; JAPANESE; MALE; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; SEXUAL DEVELOPMENT; SHORT STATURE; WILD TYPE;

ANIMALS; BODY HEIGHT; BODY WEIGHT; CERCOPITHECUS AETHIOPS; CHILD; CHORIONIC GONADOTROPIN; COS CELLS; CYCLIC AMP; GENE EXPRESSION; GONADOTROPIN-RELEASING HORMONE; HUMANS; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; JAPAN; MALE; MEDROXYPROGESTERONE ACETATE; MUTATION, MISSENSE; PENIS; POLYMERASE CHAIN REACTION; PUBERTY, PRECOCIOUS; RECEPTORS, LH; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE; TESTIS; TESTOSTERONE;

EID: 78650531208     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K10E-227     Document Type: Article

References (13)

1. Shenker A, Laue L, Kosugi S, Merendino JJ, Jr., Minegishi T, Cutler GB, Jr. (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365: 652-654.
2. Kremer H, Mariman E, Otten BJ, Moll GW, Jr., Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, Brunner HG (1993) Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum Mol Genet 192: 1779-1783.
3. Themmen APN, Huhtaniemi IT (2000) Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev 21: 551-583
4. Latronico AC, Shinozaki H, Guerra G, Jr., Pereira MA, Lemos Marini SH, Baptista MT, Arnhold IJ, Fanelli F, Mendonca BB, Segaloff DL (2000) Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: A novel constitutively activating mutation in the first transmem-brane helix. J Clin Endocrinol Metab 85: 4799-4805.
5. Shinagawa T, Katsumata N, Sato N, Horikawa R, Tanae A, Tanaka T (2000) Japanese familial patients with male-limited precocious puberty. Endocr J 47:777-782.
6. Shinagawa T, Horikawa R, Isojima T, Naiki Y, Tanaka T, Katsumata N (2007) Nonclassic steroid 21-hydroxy-lase defciency due to a homozygous v281l mutation in cyp21a2 detected by the neonatal mass-screening program in Japan. Endocr J 54: 1021-1025.
7. Minegishi T, Nakamura K, Takakura Y, Miyamoto K, Hasegawa Y, Ibuki Y, Igarashi M, Minegishi T (1990) Cloning and sequencing of human LH/hcg receptor cDNA. Biochem Biophys Res Commun 172: 1049-1054.
8. Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, Vassart G (1994) Germline mutations in the thyrotro-pin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 7: 396-401.
9. Yano K, Hidaka A, Saji M, Polymeropoulos MH, Okuno A, Kohn LD, Cutler GB, Jr (1994) A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/ choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab 79: 1818-1823.
10. Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB, Jr (1995) Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci U S A 92: 1906-1910.
11. Evans BA, Bowen DJ, Smith PJ, Clayton PE, Gregory JW (1996) 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 33: 143-147.
12. Jeha GS, Lowenthal ED, Chan WY, Wu SM, Karaviti LP (2006) Variable presentation of precocious puberty associated with the d564g mutation of the lhcgr gene in children with testotoxicosis. J Pediatr 149: 271-274.
13. Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z (2006) Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. J Pediatr 149: 416-420.