An 8.9Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

European Journal of Human Genetics

Volumn 17, Issue 7, 2009, Pages 904-910

  Lybæk, Helle ^a   Ørstavik, Karen Helene ^b,c   Prescott, Trine ^b   Hovland, Randi ^a   Breilid, Harald ^a,d   Stansberg, Christine ^a,d   Steen, Vidar Martin ^a,d   Houge, Gunnar ^a,d  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

^d UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR 54; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NR4A2; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; FMNL2 PROTEIN, HUMAN; NURR1 NUCLEAR RECEPTOR; PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 19P; CHROMOSOME 19Q; CHROMOSOME ARM; CHROMOSOME TRANSLOCATION; FAMILIAL DISEASE; FEMALE; FIBROBLAST; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENE INSERTION; GENE MAPPING; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAND MALFORMATION; HUMAN; MENTAL DEFICIENCY; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; CHROMOSOME 19; CHROMOSOME 2; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DISORDER; FAMILY; GENE EXPRESSION REGULATION; GENETICS; MALE; MIDDLE AGED; PEDIGREE;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 2; DNA-BINDING PROTEINS; FAMILY; FEMALE; GENE DUPLICATION; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; PEDIGREE; PROTEINS; PUBERTY, PRECOCIOUS; TRANSCRIPTION FACTORS;

EID: 67649184629     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.261     Document Type: Article

References (17)

1. Ardalan A, Prieur M, Choiset A, Turleau C, Goutieres F, Girard-Orgeolet S: Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20. Am J Med Genet A 2005; 138A: 288-293.
2. Gardner R, Sutherland G: Chromosome Abnormalities and Genetic Counseling. New York: Oxford University Press, 2004.
3. Henry I, Hoovers J, Barichard F et al: Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family. Genes Chromosomes Cancer 1993; 7: 57-62.
4. Madan K, Menko FH: IntrAchromosomal insertions: a case report and a review. Hum Genet 1992; 89: 1-9.
5. Friedrich U, Houman M, Sandgaard J, Rosgaard A, Sunde L: Microdissection of chromosome 2 - between-arm intrachromosomal insertion. Eur J Hum Genet 2000; 8: 393-395.
6. Lybaek H, Øyen N, Fauske L, Houge G: A 2.1 Mb deletion adjacent but disyal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties. Clin Genet 2008; 74: 553-559.
7. Lybaek H, Meza-Zepeda LA, Kresse SH, Hoysaeter T, Steen VM, Houge G: Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. Eur J Hum Genet 2008; 16: 1318-1328.
8. Stansberg C, Vik-Mo AO, Holdhus R et al: Gene expression profiles in rat brain disclose CNS signature genes and regional patterns of functional specialisation. BMC Genomics 2007; 8: 94.
9. Semple RK, Achermann JC, Ellery J et al: Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2005; 90 1849-1855.
10. Teles MG, Bianco SD, Brito VN et al: A GPR54-activating mutation in a patient with central precocious puberty. N Engl J Med 2008; 358: 709-715.
11. Ait Yahya-Graison E, Aubert J, Dauphinot L et al: Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet 2007; 81: 475-491.
12. Katoh M, Katoh M: Identification and characterization of human FMNL1, FMNL2 and FMNL3 genes in silico. Int J Oncol 2003; 22: 1161-1168.
13. Nadif Kasri N, Van Aelst L: Rho-linked genes and neurological disorders. Pflugers Arch 2008; 455: 787-797.
14. Newey SE, Velamoor V, Govek EE, Van Aelst L: Rho GTPases, dendritic structure, and mental retardation. J Neurobiol 2005; 64: 58-74.
15. Le WD, Xu P, Jankovic J et al: Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet 2003; 33: 85-89.
16. Rojas P, Joodmardi E, Hong Y, Perlmann T, Ogren SO: Adult mice with reduced Nurr1 expression: An animal model for schizophrenia. Mol Psychiatry 2007; 12: 756-766.
17. Maas SM, Hoovers JM, van Seggelen ME, Menzel DM, Hennekam RC: Interstitial deletion of the long arm of chromosome 2: A clinically recognizable microdeletion syndrome? Clin Dysmorphol 2000; 9 47-53.