Duplication 8q12: Confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

European Journal of Human Genetics

Volumn 20, Issue 5, 2012, Pages 580-583

  Amouroux, Cyril ^a   Vincent, Marie ^a   Blanchet, Patricia ^a   Puechberty, Jacques ^a   Schneider, Anouck ^a   Chaze, Anne Marie ^a   Girard, Manon ^a   Tournaire, Magali ^a   Jorgensen, Christian ^b   Morin, Denis ^a   Sarda, Pierre ^a   Lefort, Geneviève ^a   Geneviève, David ^a,b  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b Montpellier University Medical Center   (France)

Author keywords

8q12 duplication; CHD7 gene; common facial features; duane retraction syndrome; intellectual disability

Indexed keywords

BINDING PROTEIN; CARBONATE DEHYDRATASE; CARBONATE DEHYDRATASE VIII; DNA BINDING PROTEIN 7; RAP PROTEIN; RETINALDEHYDE BINDING PROTEIN 1 LIKE 1 PROTEIN; UNCLASSIFIED DRUG;

AGGRESSION; ANXIETY DISORDER; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 8Q; CHROMOSOME 8Q12; CHROMOSOME DUPLICATION; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DUANE RETRACTION SYNDROME; GENE EXPRESSION; GENE FUNCTION; HUMAN; HYDRONEPHROSIS; MALE; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRENATAL SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PYELECTASIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME CHARGE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 8; DEVELOPMENTAL DISABILITIES; DUANE RETRACTION SYNDROME; HUMANS; MALE; PHENOTYPE;

EID: 84859883116     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.243     Document Type: Article

References (26)

1. Ahluwalia BK, Gupta NC, Goel SR, Khurana AK: Study of Duane's retraction syndrome. Acta Ophthalmologica 1988; 66: 728-730. (Pubitemid 19064129)
2. DeRespinis PA, Caputo AR, Wagner RS, Guo S: Duane's retraction syndrome. Surv Ophthalmol 1993; 38: 257-288. (Pubitemid 23362701)
3. Krzywinski M, Bosdet I, Smailus D et al: A set of BAC clones spanning the human genome. Nucleic Acids Res 2004; 12: 3651-3660. (Pubitemid 39157714)
4. Jethani J, Parija S, Shetty S, Vijayalakshmi P: Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. Indian J Ophthalmol 2007; 55: 139-141.
5. Vincent AL, Watkins WJ, Sloan BH, Shelling AN: Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. Clin Genet 2005; 68: 520-523. (Pubitemid 41748851)
6. Tillman O, Kaiser HJ, Killer HE: Pseudotumor cerebri in a patient with Goldenhar's and Duane's syndromes. Ophthalmologica 2002; 216: 296-299. (Pubitemid 35007637)
7. Verzijl HT, van der Zwaag B, Lammens M, ten Donkelaar HJ, Padberg GW: The neuropathology of hereditary congenital facial palsy vs Möbius syndrome. Neurology 2005; 64: 649-653. (Pubitemid 40261893)
8. Cremers CWRJ, Hoogland GA, Kuypers W: Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome. Arch Otolaryng 1984; 110: 54-57. (Pubitemid 14219686)
9. Tischfield MA, Bosley TM, Salih MAM et al: Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genet 2005; 37: 1035-1037. (Pubitemid 41486652)
10. Holzman AE, Chrousos GA, Kozma C, Traboulsi EI: Duane's retraction syndrome in the fetal alcohol syndrome. Am J Ophthalmol 1990; 110: 565-566. (Pubitemid 20360689)
11. Failla P, Romano C, Reitano S et al: 12q12 deletion: a new patient contributing to genotype-phenotype correlation. Am J Med Genet Part A 2008; 146A: 1354-1357. (Pubitemid 351631338)
12. Borozdin W, Graham Jr JM, Böhm D et al: Multigene deletion on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mut 2007; 28: 830-840.
13. Vincent C, Kalatzis V, Compain S et al: 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 1994; 3: 1859-1866.
14. Calabrese G, Stuppia L, Morizio E et al: Detection of an insertion deletion of region 8q132q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. Eur J Hum Genet 1998; 6: 187-196.
15. Pizzuti A, Calabrese G, Bozzali M et al: A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a Duane syndrome patient. Invest Ophthalmol 2002; 43: 3609-3612. (Pubitemid 35470593)
16. Monfort S, Rosello M, Orellana C et al: 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. (Pubitemid 351977133)
17. Lehman AM, Friedman JM, Chai D et al: A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet 2009; 52: 436-439.
18. Hirota J, Ando H, Hamada K, Mikoshiba K: Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J 2003; 372: 435-441. (Pubitemid 36723889)
19. Türkmen S, Guo G, Garshasbi M et al: CA8 mutations cause a novel syndrome characterized by ataxia and mild intellectual disability with predisposition to quadrupedal gait. PLoS Genet 2009; 5: e1000487.
20. Ni X, Ma Y, Cheng H et al: Molecular cloning and characterization of a novel human Rab (Rab2B) gene. J Hum Genet 2002; 47: 548-551. (Pubitemid 35238972)
21. Katoh Y, Ritter B, Gaffry T, Blondeau F, Honing S, McPherson PS: The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology. J Biol Chem 2009; 284: 27646-27654.
22. Vissers LE, Van Ravenswaaij CM, Admiraal R et al: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet; 2004; 36: 955-957. (Pubitemid 39167490)
23. Schnetz MP, Handoko L, Akhtar-Zaidi B et al: CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression. PLoS Genet 2010; 6: e1001023.
24. Jongmans MC, Admiraal RJ, Van der Donk KP et al: CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006; 43: 306-314.
25. Calabrese G, Telvi L, Capodiferro F et al: Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40kb. Eur J Hum Genet 2000; 8: 319-324. (Pubitemid 30339334)
26. Lyons PJ, Ma LH, Baker R, Fricker LD: Carboxypeptidase A6 in zebrafish development and implications for VIth cranial nerve pathfinding. PLoS One 2010; 5: e12967.