Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 90-97

  Vuillaume, Marie Laure ^a,b   Delrue, Marie Ange ^a,b   Naudion, Sophie ^a   Toutain, JérÔme ^a   Fergelot, Patricia ^a,b   Arveiler, Benoit ^a,b   Lacombe, Didier ^a,b   Rooryck, Caroline ^a,b  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

3q13.31; Array CGH; Developmental delay; Microdeletion; Microduplication; Obesity

Indexed keywords

DOPAMINE 3 RECEPTOR; LIMBIC SYSTEM ASSOCIATED MEMBRANE PROTEIN; NEUROMODULIN; UNCLASSIFIED DRUG; ZBTB20 PROTEIN; ZINC FINGER PROTEIN; DRD3 PROTEIN, HUMAN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LIMBIC SYSTEM-ASSOCIATED MEMBRANE PROTEIN; NERVE CELL ADHESION MOLECULE; NERVE PROTEIN; TRANSCRIPTION FACTOR; ZBTB20 PROTEIN, HUMAN;

3Q13 31 MICRODELETION SYNDROME; ADOLESCENT; AGGRESSION; ARTICLE; CASE REPORT; CHILDHOOD OBESITY; CHROMOSOME DELETION; CLINODACTYLY; CONGENITAL MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; FEMALE; FRAGILE X SYNDROME; GENE DUPLICATION; GENE EXPRESSION; GENE LOCUS; GENETIC DISORDER; HEMIPLEGIA; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MACROCEPHALY; MALE; MOTOR PERFORMANCE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROGNATHIA; PTOSIS; SEIZURE; VALGUS KNEE; CHROMOSOME 3; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DUPLICATE GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENETICS; OBESITY; PATHOLOGY;

ADOLESCENT; CELL ADHESION MOLECULES, NEURONAL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GAP-43 PROTEIN; GENE DELETION; GENE DOSAGE; GENES, DUPLICATE; GPI-LINKED PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NERVE TISSUE PROTEINS; OBESITY; RECEPTORS, DOPAMINE D3; TRANSCRIPTION FACTORS;

EID: 84882885664     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.013     Document Type: Article

References (32)

1. Molin A.M., Andrieux J., Koolen D.A., Malan V., Carella M., Colleaux L., Cormier-Daire V., David A., de Leeuw N., Delobel B., Duban-Bedu B., Fischetto R., Flinter F., Kjaergaard S., Kok F., Krepischi A.C., Le Caignec C., Ogilvie C.M., Maia S., Mathieu-Dramard M., Munnich A., Palumbo O., Papadia F., Pfundt R., Reardon W., Receveur A., Rio M., Ronsbro Darling L., Rosenberg C., Sa J., Vallee L., Vincent-Delorme C., Zelante L., Bondeson M.L., Anneren G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J. Med. Genet. 2012, 49:104-109.
2. Arai K., Matukiyo H., Takazawa H. A case report of partial deletion of the long arm of the no 3 chromosome. Med. Genet. Res. 1982, 4:1-4.
3. Jenkins M.B., Stang H.J., Davis E., Boyd L. Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome. Ann. Genet. 1985, 28:42-44.
4. McMorrow L.E., Reid C.S., Coleman J., Medeiros A., D'Andrea M., Santucci T., McCormack M.K. A new interstitial deletion of the long arm of chromosome 3. Am. J. Hum. Genet. 1986, 39:124.
5. Okada N., Hasegawa T., Osawa M., Fukuyama Y. A case of de novo interstitial deletion 3q. J. Med. Genet. 1987, 24:305-308.
6. Fujita H., Meng J., Kawamura M., Tozuka N., Ishii F., Tanaka N. Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Am. J. Med. Genet. 1992, 44:434-436.
7. Genuardi M., Calvieri F., Tozzi C., Coslovi R., Neri G. A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. Clin. Dysmorphol. 1994, 3:292-296.
8. Mackie Ogilvie C., Rooney S.C., Hodgson S.V., Berry A.C. Deletion of chromosome 3q proximal region gives rise to a variable phenotype. Clin. Genet. 1998, 53:220-222.
9. Hou J.W. Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2). Am. J. Med. Genet. A 2004, 130A:200-203.
10. Kosaki R., Fukuhara Y., Kosuga M., Okuyama T., Kawashima N., Honna T., Ueoka K., Kosaki K. OEIS complex with del(3)(q12.2q13.2). Am. J. Med. Genet. A 2005, 135:224-226.
11. Lawson-Yuen A., Berend S.A., Soul J.S., Irons M. Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin. Dysmorphol. 2006, 15:217-220.
12. Sato D., Shimokawa O., Harada N., Olsen O.E., Hou J.W., Muhlbauer W., Blinkenberg E., Okamoto N., Kinoshita A., Matsumoto N., Kondo S., Kishino T., Miwa N., Ariga T., Niikawa N., Yoshiura K. Congenital arhinia: molecular-genetic analysis of five patients. Am. J. Med. Genet. A 2007, 143:546-552.
13. Simovich M.J., Bland S.D., Peiffer D.A., Gunderson K.L., Cheung S.W., Yatsenko S.A., Shinawi M. Delineation of the proximal 3q microdeletion syndrome. Am. J. Med. Genet. A 2008, 146A:1729-1735.
14. Shimojima K., Saito K., Yamamoto T. A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. Am. J. Med. Genet. A 2009, 149A:1818-1822.
15. Malan V., Chevallier S., Soler G., Coubes C., Lacombe D., Pasquier L., Soulier J., Morichon-Delvallez N., Turleau C., Munnich A., Romana S., Vekemans M., Cormier-Daire V., Colleaux L. Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. Eur. J. Hum. Genet. 2010, 18:227-232.
16. Lovrecic L., Rudolf G., Veble A., Peterlin B. A new case of rare proximal 3q13 interstitial deletion. Cent. Eur. J. Med. 2011, 6:625-630.
17. Wisniowiecka-Kowalnik B., Kastory-Bronowska M., Bartnik M., Derwinska K., Dymczak-Domini W., Szumbarska D., Ziemka E., Szczaluba K., Sykulski M., Gambin T., Gambin A., Shaw C.A., Mazurczak T., Obersztyn E., Bocian E., Stankiewicz P. Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Eur. J. Hum. Genet. 2013, 21(6):620-625.
18. Weise A., Mrasek K., Klein E., Mulatinho M., Llerena J.C., Hardekopf D., Pekova S., Bhatt S., Kosyakova N., Liehr T. Microdeletion and microduplication syndromes. J. Histochem. Cytochem. 2012, 60:346-358.
19. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-delta delta C(T)) method. Methods 2001, 25:402-408.
20. Lupski J.R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998, 14:417-422.
21. Shaw C.J., Lupski J.R. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum. Mol. Genet. 2004, 13(1):R57-R64.
22. Tonk V.S., Wilson G.N., Yatsenko S.A., Stankiewicz P., Lupski J.R., Schutt R.C., Northup J.K., Velagaleti G.V. Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Am. J. Med. Genet. A 2005, 139A:136-140.
23. Accili D., Fishburn C., Drago J., Steiner H., Lachowicz J., Park B., Gauda E., Lee E., Cool M., Sibley D., Gerfen C., Westphal H., Fuchs S. A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice. Proc. Natl. Acad. Sci. 1996, 93:1945-1949.
24. Jeanneteau F., Funalot B., Jankovic J., Deng H., Lagarde J.P., Lucotte G., Sokoloff P. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:10753-10758.
25. Limosin F., Romo L., Batel P., Ades J., Boni C., Gorwood P. Association between dopamine receptor D3 gene BalI polymorphism and cognitive impulsiveness in alcohol-dependent men. Eur. Psychiatry 2005, 20:304-306.
26. Borcherding D.C., Hugo E.R., Idelman G., De Silva A., Richtand N.W., Loftus J., Ben-Jonathan N. Dopamine receptors in human adipocytes: expression and functions. PLoS One 2011, 6:e25537.
27. Sokoloff P., Schwartz J.C. Novel dopamine receptors half a decade later. Trends Pharmacol. Sci. 1995, 16:270-275.
28. Kirillova G.P., Hrutkay R.J., Shurin M.R., Shurin G.V., Tourkova I.L., Vanyukov M.M. Dopamine receptors in human lymphocytes: radioligand binding and quantitative RT-PCR assays. J. Neurosci. Methods 2008, 174:272-280.
29. Sutherland A.P., Zhang H., Zhang Y., Michaud M., Xie Z., Patti M.E., Grusby M.J., Zhang W.J. Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis. Mol. Cell. Biol. 2009, 29:2804-2815.
30. Catania E.H., Pimenta A., Levitt P. Genetic deletion of Lsamp causes exaggerated behavioral activation in novel environments. Behav. Brain Res. 2008, 188:380-390.
31. Donovan S.L., Mamounas L.A., Andrews A.M., Blue M.E., McCasland J.S. GAP-43 is critical for normal development of the serotonergic innervation in forebrain. J. Neurosci. 2002, 22:3543-3552.
32. Holahan M.R., Honegger K.S., Tabatadze N., Routtenberg A. GAP-43 gene expression regulates information storage. Learn. Mem. 2007, 14:407-415.