Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 646-649

  Luo, Hong ^a   Xie, Li ^a   Wang, Shou Zheng ^a   Chen, Jin Lan ^a   Huang, Can ^a   Wang, Jian ^a   Yang, Jin Fu ^a   Zhang, Wei Zhi ^a   Yang, Yi Feng ^a   Tan, Zhi Ping ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

CHD7; CNV; Congenital heart defect; Copy number variation; Dosage sensitive gene; Duplication 8q12; SNP array

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8Q; CHROMOSOME 8Q12; CHROMOSOME DUPLICATION; CONGENITAL HEART MALFORMATION; DUANE RETRACTION SYNDROME; EAR MALFORMATION; FEMALE; GENE DOSAGE; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; PHENOTYPE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TORTICOLLIS;

CHARGE SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 8; DNA HELICASES; DNA-BINDING PROTEINS; DUANE RETRACTION SYNDROME; EAR; FEMALE; GENE DOSAGE; HEART DEFECTS, CONGENITAL; HUMANS; PHENOTYPE; SYMPTOM ASSESSMENT; SYNDROME; TETRALOGY OF FALLOT; TORTICOLLIS;

EID: 84867142633     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.006     Document Type: Article

References (19)

1. Vissers L.E., de Vries B.B., Veltman J.A. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J. Med. Genet. 2010, 47:289-297.
2. Bergman J.E., Janssen N., Hoefsloot L.H., Jongmans M.C., Hofstra R.M., van Ravenswaaij-Arts C.M. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J. Med. Genet. 2011, 48:334-342.
3. Sanlaville D., Verloes A. CHARGE syndrome: an update. Eur. J. Hum. Genet. 2007, 15:389-399.
4. Zentner G.E., Layman W.S., Martin D.M., Scacheri P.C. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am. J. Med. Genet. A 2010, 152A:674-686.
5. 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., van Kessel A.G. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 2004, 36:955-957.
6. Issekutz K.A., Graham J.M., Prasad C., Smith I.M., Blake K.D. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am. J. Med. Genet. A 2005, 133A:309-317.
7. Monfort S., Rosello M., Orellana C., Oltra S., Blesa D., Kok K., Ferrer I., Cigudosa J.C., Martinez 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. 2008, 45:432-437.
8. Lehman A.M., Friedman J.M., Chai D., Zahir F.R., Marra M.A., Prisman L., Tsang E., Eydoux P., Armstrong L. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur. J. Med. Genet. 2009, 52:436-439.
9. Amouroux C., Vincent M., Blanchet P., Puechberty J., Schneider A., Chaze A.M., Girard M., Tournaire M., Jorgensen C., Morin D., Sarda P., Lefort G., Genevieve D. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur. J. Hum. Genet. 2012, 20:580-583.
10. Slavotinek A.M. Novel microdeletion syndromes detected by chromosome microarrays. Hum. Genet. 2008, 124:1-17.
11. Pinto D., Darvishi K., Shi X., Rajan D., Rigler D., Fitzgerald T., Lionel A.C., Thiruvahindrapuram B., Macdonald J.R., Mills R., Prasad A., Noonan K., Gribble S., Prigmore E., Donahoe P.K., Smith R.S., Park J.H., Hurles M.E., Carter N.P., Lee C., Scherer S.W., Feuk L. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat. Biotechnology 2011, 29:512-520.
12. Chen J.L., Yang Y.F., Huang C., Wang J., Yang J.F., Tan Z.P. Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies. Am. J. Med. Genet. A 2012, 158A:685-688.
13. Huang C., Yang Y.F., Yin N., Chen J.L., Wang J., Zhang H., Tan Z.P. Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion. GENE 2012, 498:308-310.
14. DeRespinis P.A., Caputo A.R., Wagner R.S., Guo S. Duane's retraction syndrome. Surv. Ophthalmology 1993, 38:257-288.
15. Alexandrakis G., Saunders R.A. Duane retraction syndrome. Ophthalmol. Clinics North America 2001, 14:407-417.
16. Calabrese G., Telvi L., Capodiferro F., Morizio E., Pizzuti A., Stuppia L., Bordoni R., Ion A., Fantasia D., Mingarelli R., Palka G. Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. Eur. J. Hum. Genet. 2000, 8:319-324.
17. Turkmen S., Guo G., Garshasbi M., Hoffmann K., Alshalah A.J., Mischung C., Kuss A., Humphrey N., Mundlos S., Robinson P.N. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genetics 2009, 5:e1000487.
18. Katoh Y., Ritter B., Gaffry T., Blondeau F., Honing S., McPherson P.S. The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology. J. Biol. Chem. 2009, 284:27646-27654.
19. Ni X., Ma Y., Cheng H., Jiang M., Guo L., Ji C., Gu S., Cao Y., Xie Y., Mao Y. Molecular cloning and characterization of a novel human Rab (Rab2B) gene. J. Hum. Genet. 2002, 47:548-551.