A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 436-439

  Lehman, Anna M ^a   Friedman, Jan M ^a   Chai, David ^a   Zahir, Farah R ^a   Marra, Marco A ^a   Prisman, Larraine ^b   Tsang, Erica ^a   Eydoux, Patrice ^b   Armstrong, Linlea ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

CHD7 protein; Chromosome disorder; Cochlear disease; Congenital abnormalities; Duane retraction syndrome; Human; Oligonucleotide microarray

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8Q; CHROMOSOME DUPLICATION; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DUANE RETRACTION SYNDROME; EXTERNAL EAR MALFORMATION; FAILURE TO THRIVE; FEMALE; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MUSCLE HYPOTONIA; MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; SYNDROME CHARGE;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70350622578     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.09.006     Document Type: Article

References (15)

1. Cahan P., Li Y., Izumi M., and Graubert T.A. The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells. Nat. Genet. 41 (2009) 430-437
2. Calabrese G., Telvi L., Capodiferro F., Morizio E., Pizzuti A., Stuppia L., Bordoni R., Ion A., Fantasia D., Mingarelli R., and Palka G. Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. Eur. J. Hum. Genet. 8 (2000) 319-324
3. Delaney A., Qian H., Friedman J.M., and Marra M. Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation. Curr. Protoc. Hum. Genet. (2008) (Chapter 8): Unit 8.13
4. J.M. Friedman, S. Adam, L. Arbour, L. Armstrong, A. Baross, P. Birch, C. Boerkoel, S. Chan, D. Chai, A.D. Delaney, S. Flibotte, W.T. Gibson, S. Langlois, E. Lemyre, H.I. Li, P. MacLeod, J. Mathers, J.L. Michaud, B.C. McGillivray, M.S. Patel, H. Qian, G.A. Rouleau, M.I. Van Allen, S.L. Yong, F.R. Zahir, P. Eydoux, M.A. Marra, Improved detection of pathogenic copy number variants in children with intellectual disability using 500K SNP array genomic hybridization. BMC Genomics, submitted for publication.
5. Jongmans M.C., Admiraal R.J., van der Donk K.P., Vissers L.E., Baas A.F., Kapusta L., van Hagen J.M., Donnai D., de Ravel T.J., Veltman J.A., Geurts van Kessel A., De Vries B.B., Brunner H.G., Hoefsloot L.H., and van Ravenswaaij C.M. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 43 (2006) 306-314
6. Lee J.A., Carvalho C.M., and Lupski J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131 (2007) 1235-1247
7. Lupski J.R., and Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 1 (2005) e49
8. Miller N.R. In: Miller N.R. (Ed). Walsh and Hoyt's Clinical Neuro-Ophthalmology. fourth ed. vol. 2 (1982), Williams & Wilkins, Baltimore 691
9. Monfort S., Roselló M., Orellana C., Oltra S., Blesa D., Kok K., Ferrer I., Cigudosa J.C., and Martínez F. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. J. Med. Genet. 45 (2008) 432-437
10. Pizzuti A., Calabrese G., Bozzali M., Telvi L., Morizio E., Guida V., Gatta V., Stuppia L., Ion A., Palka G., and Dallapiccola B. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a Duane syndrome patient. Invest. Ophthalmol. Vis. Sci. 43 (2002) 3609-3612
11. Portnoï M.F. Microduplication 22q11.2: a new chromosomal syndrome. Eur. J. Med. Genet. 52 (2009) 88-93
12. Ruangvutilert P., Delhanty J.D., Rodeck C.H., and Harper J.C. Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic or triploid fibroblast cultures. Prenat. Diagn. 20 (2000) 159-162
13. Vincent C., Kalatzis V., Compain S., Levilliers J., Slim R., Graia F., de Lurdes Pereira M., Nivelon A., Croquette M., Lacombe D., Vigneron J., Helias J., Broyer M., Callen D.F., Haan E.A., Weissenbach J., Lacroix B., Bellané-Chantelot C., Le Paslier D., Cohen D., and Petit C. A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Hum. Mol. Genet. 3 (1994) 1859-1866
14. Vissers L.E., van Ravenswaaij C.M., Admiraal R., Hurst J.A., de Vries B.B., Janssen I.M., van der Vliet W.A., Huys E.H., de Jong P.J., Hamel B.C., Schoenmakers E.F., Brunner H.G., Veltman J.A., and van Kessel A.G. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 36 (2004) 955-957
15. Zheng Y., Schachern P.A., Cureoglu S., Mutlu C., Dijalilian H., and Paparella M.M. The shortened cochlea: its classification and histopathologic features. Int. J. Pediatr. Otorhinolaryngol. 63 (2002) 29-39