Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty [1]

Clinical Endocrinology

Volumn 59, Issue 4, 2003, Pages 533-534

  Latronico, Ana Claudia ^a   Billerbeck, Ana Elisa C ^a   Pinto, Emilia Modolo ^a   D'Alva, Catarina Brazil ^a   Arnhold, Ivo Jorge P ^a   Mendonca, Berenice B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

ALLELE; BRAZIL; CHROMOSOME 2; CLINICAL EXAMINATION; DNA POLYMORPHISM; FAMILIAL MALE LIMITED PRECOCIOUS PUBERTY; GENE ACTIVATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MASCULINITY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; UNIPARENTAL DISOMY; WILD TYPE;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 2; DIPLOIDY; HOMOZYGOTE; HUMANS; MALE; MUTATION; PUBERTY, PRECOCIOUS; RECEPTORS, LH;

EID: 0141616452     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2003.01810.x     Document Type: Letter

References (5)

1. Bakker, B., Bikker, H., Hennekam, R.C.M., Lommen, E.J.P., Schipper, M.G.J., Vulsma, T. & Vijlder, J.J.M. (2001) Maternal isodisomy for chromosome 2p causing severe congental hypothyroidism. Journal of Clinical Endocrinology and Metabolism, 86, 1164-1168.
2. Latronico, A.C., Hiromitsu, S., Guerra, G. Jr, Pereira, M.A.A., Marini, S.H.V.L., Baptista, M.T.M., Arnhold, I.J.P., Fanelli, F., Mendonça, B.B. & Segaloff, D.L. (2000a) Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. Journal of Clinical Endocrinolology and Metabolism, 85, 4799-4805.
3. Latronico, A.C., Lins, T.S., Brito, V.N., Arnhold, I.J.P. & Mendonça, B.B. (2000b) The effect of distinct activating mutations of the luteinizing hormone receptor gene on pituitary-gonadal axis in both sexes. Clinical Endocrinolonolgy, 53, 609-613.
4. Rousseau-Merck, M.F., Misrahi, M., Atger, M., Lossfelt, H., Milgrom, E. & Berger, R. (1999) Localization of the human luteinizing hormone/choriogonadotropin receptor (LHCGR) to chromosome 2p21. Cytogenetic Cell Genetic, 54, 77-79.
5. Shenker, A., Laue, L., Kosugi, S., Merendino, J.J. Jr, Minegishi, T. & Cutler, G.B. Jr (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature, 365, 652-654.