Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3173-3178

  Roetzer, Katharina M ^a   Schwarzbraun, Thomas ^a   Obenauf, Anna C ^a   Hauser, Erwin ^b   Speicher, Michael R ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b Sr M Restituta Gasse ^*  (Austria)

Author keywords

Array CGH; Microdeletion syndrome; Microduplication syndrome; Phenotype

Indexed keywords

ADOLESCENT; ARTICLE; ASTHENIA; AUTISM; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DYSCALCULIA; FACE DYSMORPHIA; FEMALE; GENETIC ANALYSIS; HAPPY PUPPET SYNDROME; HUMAN; JOINT HYPERMOBILITY; KARYOTYPING; MALE; PATHOGENICITY; PRIORITY JOURNAL; SPEECH DISORDER; TOOTH DISEASE;

ADOLESCENT; ADULT; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MOTHERS; PHENOTYPE; SYNDROME;

EID: 78649671981     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33750     Document Type: Article

References (23)

1. Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M. 2009. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Am J Med Genet Part A 149A: 2813-2819.
2. Banerjee S, Brooks WS, Crawford DF. 2007. Inactivation of the ubiquitin conjugating enzyme UBE2Q2 causes a prophase arrest and enhanced apoptosis in response to microtubule inhibiting agents. Oncogene 26: 6509-6517.
3. Beighton P, Horan F. 1969. Orthopaedic aspects of Ehlers-Danlos syndrome. J Bone Joint Surg Br 51B: 444-453.
4. Buffo A, Vosko MR, Ertürk D, Hamann GF, Jucker M, Rowitch D, Götz M. 2005. Expression pattern of the transcription factor Olig2 in response to brain injuries: Implications for neuronal repair. Proc Natl Acad Sci USA 102: 18183-18188.
5. Chen JJ, Reid CE, Band V, Androphy EJ. 1995. Interaction of papillomavirus E6 oncoproteins with a putative calcium-binding protein. Science 269: 529-531.
6. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. 2009. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet 126: 589-602.
7. Finocchiaro G, Ito M, Ikeda Y, Tanaka K. 1988. Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein. J Biol Chem 263: 15773-157780.
8. Harari D, Tzahar E, Romano J, Shelly M, Pierce JH, Andrews GC, Yarden Y. 1999. Neuregulin-4: A novel growth factor that acts through the ErbB-4 receptor tyrosine kinase. Oncogene 18: 2681-2689.
9. Indo Y, Glassberg R, Yokota I, Tanaka K. 1991. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II-and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. Am J Hum Genet 49: 575-580.
10. Kiholm Lund AB, Hove HD, Kirchhoff M. 2008. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. Eur J Med Genet 51: 520-526.
11. Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. 2008. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur J Pediatr 167: 903-908.
12. Ligon KL, Kesari S, Kitada M, Sun T, Arnett HA, Alberta JA, Anderson DJ, Stiles CD, Rowitch DH. 2006. Development of NG2 neural progenitor cells requires Olig gene function. Proc Natl Acad Sci USA 103: 7853-7858.
13. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E. 1989. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19: 185-212.
14. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. 2008. Structural variations of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477-488.
15. Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L. 2009. Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1-Mb 15q24.1q24.2 interstitial deletion identified by array-CGH. Am J Med Genet Part A 149A: 1504-1510.
16. Mi S, Miller RH, Lee X, Scott ML, Shulag-Morskaya S, Shao Z, Chang J, Thill G, Levesque M, Zhang M, Hession C, Sah D, Trapp B, He Z, Jung V, McCoy JM, Pepinsky RB. 2005. LINGO-1 negatively regulates myelination by oligodendrocytes. Nat Neurosci 8: 745-751.
17. Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, Zuffardi O, Eichler EE. 2007. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 16: 567-572.
18. Spencer S, Dowbenko D, Cheng J, Li W, Brush J, Utzig S, Simanis V, Lasky LA. 1997. PSTPIP: A tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase. J Cell Biol 138: 845-860.
19. Sumoy L, Carim L, Escarceller M, Nadal M, Gratacos M, Pujana MA, Estivill X, Peral B. 2000. HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression. Cytogenet Cell Genet 88: 62-67.
20. Thaler JP, Koo SJ, Kania A, Lettieri K, Andrews S, Cox C, Jessell TM, Pfaff SL. 2004. A postmitotic role for Isl-class LIM homeodomain proteins in the assignment of visceral spinal motor neuron identity. Neuron 41: 337-350.
21. Tsang WY, Dynlacht BD. 2008. Double identity of SCAPER: A substrate and regulator of cyclin A/Cdk2. Cell Cycle 7: 702-705.
22. Van Esch H, Backx L, Pijkels E, Fryns JP. 2009. Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet 52: 153-156.
23. Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M. 2002. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 11: 961-969.