Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty

European Journal of Endocrinology

Volumn 174, Issue 1, 2016, Pages 1-8

  Simon, Dominique ^a,b,c   Ba, Ibrahima ^a   Mekhail, Nancy ^a   Ecosse, Emmanuel ^a   Paulsen, Anne ^a   Zenaty, Delphine ^a,b,c   Houang, Muriel ^d   Perelroizen, Monique Jesuran ^e   De Filippo, Gian Paolo ^f   Salerno, Mariacarolina ^g   Simonin, Gilbert ^h   Reynaud, Rachel ^h   Carel, Jean Claude ^a,b,c   Léger, Juliane ^a,b,c   De Roux, Nicolas ^a,b,c  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSERM   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e Centre d'Endocrinologie Pédiatrique   (France)

^f G RUMMO HOSPITAL   (Italy)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^h AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; FRANCE; GENE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; IDIOPATHIC CENTRAL PRECOCIOUS PUBERTY; ITALY; MALE; MISSENSE MUTATION; MKRN3 GENE; MUTATIONAL ANALYSIS; OBSERVATIONAL STUDY; PEDIATRICS; PHENOTYPE; PRECOCIOUS PUBERTY; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; RETROSPECTIVE STUDY; FATHER; GENETICS; MOTHER; MUTATION; PEDIGREE; PRESCHOOL CHILD; PUBERTY;

MKRN3 PROTEIN, HUMAN; RIBONUCLEOPROTEIN;

CHILD; CHILD, PRESCHOOL; FATHERS; FEMALE; FRAMESHIFT MUTATION; FRANCE; HETEROZYGOTE; HUMANS; ITALY; MALE; MOTHERS; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PUBERTY; PUBERTY, PRECOCIOUS; RIBONUCLEOPROTEINS;

EID: 84956760022     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-15-0488     Document Type: Article

References (21)

1. Carel JC & Leger J. Clinical practice. Precocious puberty. New England Journal of Medicine 2008 358 2366-2377. (doi:10.1056/ NEJMcp0800459)
2. Chalumeau M, Hadjiathanasiou CG, Ng SM, Cassio A, Mul D, Cisternino M, Partsch CJ, Theodoridis C, Didi M, Cacciari E et al. Selecting girls with precocious puberty for brain imaging: Validation of European evidence-based diagnosis rule. Journal of Pediatrics 2003 143 445-450. (doi:10.1067/S0022-3476(03)00328-7)
3. Tomkins DJ, Roux AF, Waye J, Freeman VC, Cox DW & Whelan DT. Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty. European Journal of Human Genetics 1996 4 153-159.
4. Mutesa L, Hellin AC, Jamar M, Pierquin G, Bours V & Verloes A. Precocious puberty associated with partial trisomy 18q and monosomy 11q. Genetic Counseling 2007 18 201-207.
5. Partsch CJ, Japing I, Siebert R, Gosch A, Wessel A, Sippell WG & Pankau R. Central precocious puberty in girls with Williams syndrome. Journal of Pediatrics 2002 141 441-444. (doi:10.1067/mpd.2002.127280)
6. de Vries L, Kauschansky A, Shohat M & Phillip M. Familial central precocious puberty suggests autosomal dominant inheritance. Journal of Clinical Endocrinology and Metabolism 2004 89 1794-1800. (doi:10.1210/jc.2003-030361)
7. Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M et al. Mutations of the KISS1 gene in disorders of puberty. Journal of Clinical Endocrinology and Metabolism 2010 95 2276-2280. (doi:10.1210/jc.2009-2421)
8. Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB & Latronico AC. A GPR54-Activating mutation in a patient with central precocious puberty. New England Journal of Medicine 2008 358 709-715. (doi:10.1056/ NEJMoa073443)
9. Huijbregts L, Roze C, Bonafe G, Houang M, Le Bouc Y, Carel JC, Leger J, Alberti P & de Roux N. DNA polymorphisms of the KiSS1 30 untranslated region interfere with the folding of a G-rich sequence into G-quadruplex. Molecular and Cellular Endocrinology 2012 351 239-248. (doi:10.1016/j.mce.2011.12.014)
10. Leka-Emiri S, Louizou E, Kambouris M, Chrousos G, De Roux N & Kanaka-Gantenbein C. Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty. Hormone Research in Paediatrics 2014 81 177-181. (doi:10.1159/000356913)
11. Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. New England Journal of Medicine 2013 368 2467-2475. (doi:10.1056/ NEJMoa1302160)
12. Settas N, Dacou-Voutetakis C, Karantza M, Kanaka-Gantenbein C, Chrousos GP & Voutetakis A. Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene. Journal of Clinical Endocrinology and Metabolism 2014 99 E647-E651. (doi:10.1210/jc.2013-4084)
13. Schreiner F, Gohlke B, Hamm M, Korsch E & Woelfle J. MKRN3 mutations in familial central precocious puberty. Hormone Research in Paediatrics 2014 82 122-126. (doi:10.1159/000362815)
14. Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS et al. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin RING finger 3. Journal of Clinical Endocrinology and Metabolism 2014 99 E1097-E1103. (doi:10.1210/jc.2013-3126)
15. de Vries L, Gat-Yablonski G, Dror N, Singer A & Phillip M. A novel MKRN3 missense mutation causing familial precocious puberty. Human Reproduction 2014 29 2838-2843. (doi:10.1093/humrep/ deu256)
16. Crino A, Di Giorgio G, Schiaffini R, Fierabracci A, Spera S, Maggioni A & Gattinara GC. Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome. European Journal of Pediatrics 2008 167 1455-1458. (doi:10.1007/s00431-008-0679-0)
17. de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL & Milgrom E. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. PNAS 2003 100 10972-10976. (doi:10.1073/pnas.1834399100)
18. Hagen CP, Sorensen K, Mieritz MG, Johannsen TH, Almstrup K & Juul A. Circulating MKRN3 levels decline prior to pubertal onset and through puberty: A longitudinal study of healthy girls. Journal of Clinical Endocrinology and Metabolism 2015 100 1920-1926. (doi:10.1210/ jc.2014-4462)
19. Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014 514 92-97. (doi:10.1038/nature13545)
20. Herbison AE. Physiology of the adult gonadotropin-releasing hormone neuronal network. In Physiology of Reproduction, ch 28. pp 399-467. Eds TM Plant & AJ Zeleznik. London: Elsevier Academic Press, 2015.
21. Ojeda SR & Lomniczi A. Puberty in 2013: Unravelling the mystery of puberty. Nature Reviews. Endocrinology 2014 10 67-69. (doi:10.1038/ nrendo.2013.233)