An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature

Twin Research and Human Genetics

Volumn 14, Issue 4, 2011, Pages 333-339

  Ng, Ivy S L ^a   Chin, Wai Hoe ^a   Lim, Eileen C P ^a   Tan, Ene Choo ^a,b  

^a KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

15q24; Developmental delay; Dysmorphism; Microdeletion; qRT PCR; Speech delay

Indexed keywords

ARTICLE; CASE REPORT; CERUMEN IMPACTION; CHILD; CHINESE; CHROMOSOME 15Q; CHROMOSOME 15Q23; CHROMOSOME 15Q24.1; CHROMOSOME 15Q24.3; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 15Q24; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; CONSANGUINEOUS MARRIAGE; CONVERGENT STRABISMUS; CORONAL SUTURE; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA MICROARRAY; EPICANTHUS; EPICANTHUS INVERSUS; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; FINGER MALFORMATION; GENE FUNCTION; HAND MALFORMATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; LABIAL ADHESION; LAMBDOID SUTURE; LIP DISEASE; MYRINGOTOMY; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL PHAGIOCEPHALY; OCCUPATIONAL THERAPY; ORBIT DISEASE; OTITIS MEDIA; PALPEBRAL FISSURE ANOMALY; PLAGIOCEPHALY; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RECURRENT DISEASE; RECURRENT MICRODELETION SYNDROME; SCHOOL CHILD; SIMIAN CREASE; SKULL MALFORMATION; SKULL SUTURE; SMALL ORBIT; SPEECH DISORDER; SPEECH THERAPY; STRUCTURAL CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME;

EID: 80051515827     PISSN: 18324274     EISSN: None     Source Type: Journal    
DOI: 10.1375/twin.14.4.333     Document Type: Article

References (22)

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. American Journal of Medical Genetics A, 149A, 2813-2819.
2. Brauninger, A., Holtrich, U., Strebhardt, K., &Rubsamen-Waigmann, H. (1992). Isolation and characterization of a human gene that encodes a new subclass of protein tyrosine kinases. Gene, 110, 205-211.
3. Cushman, L. J., Torres-Martinez, W., Cherry, A. M., Manning, M. A., Abdul-Rahman, O., Anderson, C. E., Punnett, H. H., Thurston, V. C., Sweeney, D., & Vance, G. H. (2005). A report of three patients with an interstitial deletion of chromosome 15q24. American Journal of Medical Genetics A, 137, 65-71. (Pubitemid 41105538)
4. El-Hattab, A. W., Smolarek, T. A., Walker, M. E., Schorry, E. K., Immken, L. L., Patel, G., Abbott, M. A., Lanpher, B. C., Ou, Z., Kang, S. H., Patel, A., Scaglia, F., Lupski, J. R., Cheung, S. W., & Stankiewicz, P. (2009). Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Human Genetics, 126, 589-602.
5. El-Hattab, A. W., Zhang, F., Maxim, R., Christensen, K. M., Ward, J. C., Hines-Dowell, S., Scaglia, F., Lupski, J. R., &Cheung, S. W. (2010). Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genetics in Medicine, 12, 573-86.
6. Hu, M. C., Hsu, H. J., Guo, I. C., & Chung, B. C. (2004). Function of Cyp11a1 in animal models. Molecular Cell Endocrinology, 215, 95-100.
7. Hu, M. C., Hsu, N. C., El Hadj, N. B., Pai, C. I., Chu, H. P., Wang, C. K., & Chung, B. C. (2002) Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1. Molecular Endocrinology, 16, 1943-1950.
8. Kaczmarek, K., Niedzialkowska, E., Studencka, M., Schulz, Y., &Grzmil, P. (2009). Ccdc33, a predominantly testis-expressed gene, encodes a putative peroxisomal protein. Cytogenetics Genome Research, 126, 243-252.
9. Klopocki, E., Graul-Neumann, L. M., Grieben, U., Tonnies, H., Ropers, H. H., Horn, D., Mundlos, S., & Ullmann, R. (2008). A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics, 167, 903-908. (Pubitemid 351904600)
10. Kobayashi, K., Era, T., Takebe, A., Jakt, L. M., & Nishikawa, S. (2006). ARID3B induces malignant transformation of mouse embryonic fibroblasts and is strongly associated with malignant neuroblastoma. Cancer Research, 66, 8331-8336. (Pubitemid 44449139)
11. Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., Thiruvahindrapduram, B., Fiebig, A., Schreiber, S., Friedman, J., Ketelaars, C. E., Vos, Y. J., Ficicioglu, C., Kirkpatrick, S., Nicolson, R., Sloman, L., Summers, A., Gibbons, C. A., 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, S. W. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82, 477-488.
12. Masurel-Paulet, A., Callier, P., Thauvin-Robinet, C., Chouchane, M., Mejean, N., Marle, N., Mosca, A. L., 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. American Journal of Medical Genetics A, 149A, 1504-1510.
13. McInnes, L. A., Nakamine, A., Pilorge, M., Brandt, T., Jimenez Gonzalez, P., Fallas, M., Manghi, E. R., Edelmann, L., Glessner, J., Hakonarson, H., Betancur, C. & Buxbaum, J. D. (2010) A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region, Molecular Autism, 1, 5.
14. Numata, S., Claudio, P. P., Dean, C., Giordano, A. & Croce, C. M. (1999). Bdp, a new member of a family of DNA-binding proteins, associates with the retinoblastoma gene product, Cancer Research, 59, 3741-3747. (Pubitemid 29381881)
15. Pasterkamp, R. J., Kolk, S. M., Hellemons, A. J., & Kolodkin, A. L. (2007). Expression patterns of semaphorin7A and plexinC1 during rat neural development suggest roles in axon guidance and neuronal migration. BMC Developmental Biology, 7, 98.
16. Pasterkamp, R. J., Peschon, J. J., Spriggs, M. K. & Kolodkin, A. L. (2003). Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. Nature, 424, 398-405. (Pubitemid 36917482)
17. Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., Fitzpatrick, D. R., Nurnberg, G., Brasch, F., Schirmer- Zimmermann, H., Tolmie, J. L., Chitayat, D., Houge, G., Fernandez-Martinez, L., Keating, S., Mortier, G., Hennekam, R. C., von der Wense, A., Slavotinek, A., Meinecke, P., Bitoun, P., Becker, C., Nurnberg, P., Reis, A. & Rauch, A., (2007). Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. American Journal of Human Genetics, 80, 550-560.
18. Rudolph, C., Sigruener, A., Hartmann, A., Orso, E., Bals- Pratsch, M., Gronwald, W., Seifert, B., Kalbitzer, H. R., Verdorfer, I., Luetjens, C. M., Ortmann, O., Bornstein, S. R., & Schmitz, G. (2007). ApoA-I-binding protein (AI-BP) and its homologues hYjeF-N2 and hYjeF-N3 comprise the YjeF-N domain protein family in humans with a role in spermiogenesis and oogenesis. Hormone and Metabolic Research, 39, 322-335. (Pubitemid 46877847)
19. Sharp, A. J., Selzer, R. R., Veltman, J. A., Gimelli, S., Gimelli, G., Striano, P., Coppola, A., Regan, R., Price, S. M., Knoers, N. V., Eis, P. S., Brunner, H. G., Hennekam, R. C., Knight, S. J., de Vries, B. B., Zuffardi, O., & Eichler, E. E. (2007). Characterization of a recurrent 15q24 microdeletion syndrome. Human Molecular Genetics, 16, 567-572. (Pubitemid 46522619)
20. Shimada, T., & Fujii-Kuriyama, Y. (2004). Metabolic activation of polycyclic aromatic hydrocarbons to carcinogens by cytochromes P450 1A1 and 1B1. Cancer Science, 95, 1-6. (Pubitemid 38208399)
21. Van Esch, H., Backx, L., Pijkels, E., & Fryns, J. P. (2009). Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. European Journal of Medical Genetics, 52, 153-156.
22. Yerushalmi, N., Keppler-Hafkemeyer, A., Vasmatzis, G., Liu, X. F., Olsson, P., Bera, T. K., Duray, P., Lee, B., & Pastan, I. (2001). ERGL, a novel gene related to ERGIC-53 that is highly expressed in normal and neoplastic prostate and several other tissues. Gene, 265, 55-60. (Pubitemid 32209250)