Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2681-2687

  Giorda, Roberto ^a   Beri, Silvana ^a   Bonaglia, M Clara ^a   Spaccini, Luigina ^b   Scelsa, Barbara ^b   Manolakos, Emmanouil ^c   Mina, Erika Della ^d   Ciccone, Roberto ^d   Zuffardi, Orsetta ^d,e  

^a SCIENTIFIC INSTITUTE   (Italy)

^b V BUZZI CHILDREN S HOSPITAL   (Italy)

^c BIOIATRIKI HEALTHCARE GROUP   (Greece)

^d UNIVERSITY OF PAVIA   (Italy)

^e C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

Chromosomal triplication; Paralogous genes; Segmental duplication; TCEB3; VCX

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME INACTIVATION; CHROMOSOME STRUCTURE; CHROMOSOME XP; CLEFT PALATE; CLINODACTYLY; CYTOGENETICS; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FEMALE; GENE; GENE DOSAGE; GENE DUPLICATION; GENE LOCATION; GENE OVEREXPRESSION; GENE REARRANGEMENT; GENETIC POLYMORPHISM; HEART SEPTUM DEFECT; HUMAN; HYDROCEPHALUS; INTRON; LEUKOMALACIA; MALE; MAXILLA HYPOPLASIA; NEUROLIGIN 4 GENE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SPEECH DISORDER; STRUCTURAL CHROMOSOME ABERRATION; SYSTOLIC HEART MURMUR; TRANSCRIPTION ELONGATION FACTOR B POLYPEPTIDE 3 GENE; VCX2 GENE; VCX3A GENE; VCX3B GENE;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, X; CLONING, MOLECULAR; DEVELOPMENTAL DISABILITIES; DNA END-JOINING REPAIR; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC HETEROGENEITY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; METAPHASE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS; TRISOMY;

EID: 80054915899     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34248     Document Type: Article

References (34)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G. 2008. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 18:847-858.
3. Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O. 2008. A familial inverted duplication/deletion of 2p25.1-25. 3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet 17:179-186.
4. Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, CORGI Consortium, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS. 2007. genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 39:1315-1317.
5. Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL. 2003. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet 72:419-428.
6. Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P. 2006. Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. Am J Med Genet 140:1219-1222.
7. El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. 2003. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet 12:357-364.
8. Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. 2000. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 67:563-573.
9. Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, Alvin GB, Klotz I, Dicker E, Shinnar S, Bromfield EB, Resor S, Cohen J, Moshe SL, Harden C, Kang H. 2005. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 76:139-146.
10. Griffiths R. 1979. The abilities of babies. A study in mental measurement. Amersham, England: Eden House.
11. Gu W, Zhang F, Lupski JR. 2008. Mechanisms for human genomic rearrangements. Pathogenetics 1:4.
12. Harrison KJ, Teshima IE, Silver MM, Jay V, Unger S, Robinson WP, James A, Levin A, Chitayat D. 1998. Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies. Am J Med Genet 79:103-107.
13. Howe JR, Ringold JC, Summers RW, Mitros FA, Nishimura DY, Stone EM. 1998. A gene for familial juvenile polyposis maps to chromosome 18q21.1. Am J Hum Genet 62:1129-1136.
14. Lahn BT, Page DC. 2000. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum Mol Genet 9:311-319.
15. Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247.
16. Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M. 2005. Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: No difference in deletion size for patients with and without mental retardation. Clin Genet 67:367-368.
17. Liu P, Erez A, Sreenath Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. 2011. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 20:1975-1988.
18. Long FL, Duckett DP, Billam LJ, Williams DK, Crolla JA. 1998. Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay. J Med Genet 35:425-428.
19. Macarov M, Zeigler M, Newman JP, Strich D, Sury V, Tennenbaum A, Meiner V. 2007. Deletions of VCX-A and NLGN4: A variable phenotype including normal intellect. J Intellect Disabil Res 51:329-333.
20. Mercer CL, Browne CE, Barber JCK, Maloney VK, Huang S, Thomas NS, Foulds N. 2009. A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH. Cytogenet Genome Res 124:179-186.
21. Mochel F, Missirian C, Reynaud R, Moncla A. 2008. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Eur J Med Genet 51:68-73.
22. Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. 2008. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet 40:1163-1165.
23. Myers S, Freeman C, Auton A, Donnelly P, McVean G. 2008. A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet 40:1124-1129.
24. Ounap K, Ilus T, Bartsch O. 2005. A girl with inverted triplication of chromosome 3q25.3 -> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am J Med Genet Part A 134:434-438.
25. Rauch A, Pfeiffer RA, Trautmann U. 1996. Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders. Clin Genet 49:279-285.
26. Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla JA. 1998. Intrachromosomal triplication of distal 7p. J Med Genet 35:78-80.
27. Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA, Thomas S. 2002. Characterisation of interstitial duplications and triplications of chromosome 15q11-q13. Hum Genet 110:227-234.
28. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. 1994. Intrachromosomal triplication of 15q11-q13. J Med Genet 31:798-803.
29. Schluth C, Mattei MG, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Gingliger E, Jeandidier E. 2005. Intrachromosomal triplication for the distal part of chromosome 15q. Am J Med Genet Part A 136A:179-184.
30. Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. 2001. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet 38:26-34.
31. Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. 2005. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 14:1795-1803.
32. Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoï MF, Moirot H, Mattei MG. 2003. Mechanism of intrachromosomal triplications 15q11-q13: A new clinical report. Am J Med Genet Part A 118A:229-234.
33. Wang J, Reddy KS, Wang E, Halderman L, Morgan BL, Lachman RS, Lin HJ, Cornford ME. 1999. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism. Am J Med Genet 82:312-317.
34. Zuffardi O, Bonaglia M, Ciccone R, Giorda R. 2009. Inverted duplications deletions: Underdiagnosed rearrangements?? Clin Genet 75:505-513.