Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia

European Journal of Medical Genetics

Volumn 55, Issue 8-9, 2012, Pages 461-465

  Ben Abdallah Bouhjar, Inesse ^a,b   Hannachi, Hanene ^a,b   Labalme, Audrey ^c   Gmidène, Abir ^a   Mougou, Soumaya ^a,b   Soyah, Najla ^a   Gribaa, Moez ^a   Sanlaville, Damien ^c   Elghezal, Hatem ^a,b   Saad, Ali ^a,b  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF SOUSSE   (Tunisia)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

Array CGH; Deletion 3p26.3; FISH; Hypotonia; Intellectuel disability; PCR; Xq27 qter functional disomy

Indexed keywords

ARTICLE; AUTOSOME; CASE REPORT; CHILD; CHROMOSOME 3; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CORRELATION ANALYSIS; DISOMY; DNA DETERMINATION; GENETIC COUNSELING; GENOTYPE; HUMAN; INFANT; INFRARED SPECTROSCOPY; KARYOTYPE; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRESCHOOL CHILD; X CHROMOSOME;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PRADER-WILLI SYNDROME;

EID: 84864117330     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.04.011     Document Type: Article

References (36)

1. Cheng S.F., Rauen K.A., Pinkel D., Albertson D.G., Cotter P.D. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am. J. Med. Genet. A 2005, 135:308-313.
2. Sanlaville D., Schluth-Bolard C., Turleau C. Distal Xq duplication and functional Xq disomy. Orph. J. Rare Dis. 2009, 4:1-12.
3. Van Esch H., Bauters M., Ignatius J., Jansen M., Raynaud M., Hollanders K., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological Symptoms in males. Am. J. Hum. Genet. 2005, 77:442-453.
4. Menten B., Maas N., Thienpont B., Buysse K., Vandesompele J., Melotte C., et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet. 2006, 43:625-633.
5. Brown C.J., Robinson W.P. The causes and consequences of random and non-random X chromosome inactivation in humans. Clin. Genet. 2000, 58:353-363.
6. Ropers H.H. X-linked mental retardation: many genes for a complex disorder. Curr. Opin. Genet. Dev. 2006, 16:260-269.
7. Mattei M.G., Mattei J.F., Ayme S., Giraud F. X-Autosome translocations: cytogenetic characteristics and their consequences. Hum. Genet. 1982, 61:295-309.
8. Du Sart D., Kalitsis P., Schmidt M. Noninactivation of a portion of Xq28 in a balanced X-autosome translocation. Am. J. Med. Genet. 1992, 15:156-160.
9. Akiyama M., Kawame H., Ohashi H., Tohma T., Ohta H., Shishikura A., Miyata I., Usui N., Eto Y. Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation. Am. J. Med. Genet. 2001, 1:111-114.
10. Bialer M.G., Anguiano A., Taff I., Shanmugham A., La Grave D., White B.J. Do novo trisomy Xq28-qter detected by subtelomeric FISH screening. Am. J. Hum. Genet. 2003, 73:300.
11. Sanlaville D., Prieur M., de Blois M.C. Functional disomy of the Xq28 chromosome region. Eur. J. Hum. Genet. 2005, 13:579-585.
12. Breman A.M., Ramocki M.B., Kang S.H.L., Williams M., Freedenberg D., Patel A., et al. MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur. J. Hum. Genet. 2011, 19:409-415.
13. Carvalho C.M., Zhang F., Liu P., Patel A., Sahoo T., Bacino C.A., Shaw C., Peacock S., Pursley A., Tavyev Y.J., Ramocki M.B., Nawara M., Obersztyn E., Vianna-Morgante A.M., Stankiewicz P., Zoghbi H.Y., Cheung S.W., Lupski J.R. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum. Mol. Genet. 2009, 18:2188-2203.
14. Lee J.A., Carvalho C.M., Lupski J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007, 131:1235-1247.
15. Bauters M., Van Esch H., Friez M.J., Boespflug-Tanguy O., Zenker M., Vianna-Morgante A.M., et al. Non recurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 2008, 18:847-858.
16. Vandewalle J., Van Esch H., Govaerts K., Verbeeck J., Zweier C., Madrigal I., et al. Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number Gain at Xq28 mediated by an unusual recombination. Am. J. Hum. Genet. 2009, 85:809-822.
17. Ramocki M.B., Tavyev Y.J., Peters S.U. The MECP2 duplication syndrome. Am. J. Med. Genet. A 2010, 152A(5):1079-1088.
18. del Gaudio D., Fang P., Scaglia F., Ward P.A., Craigen W.J., Glaze D.G., Neul J.L., Patel A., Lee J.A., Irons M., Berry S.A., Pursley A.A., Grebe T.A., Freedenberg D., Martin R.A., Hsich G.E., Khera J.R., Friedman N.R., Zoghbi H.Y., Eng C.M., Lupski J.R., Beaudet A.L., Cheung S.W., Roa B.B. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 2006, 8:784-792.
19. Lugtenberg D., Kleefstra T., Oudakker A.R., Nillesen W.M., Yntema H.G., Tzschach A., Raynaud M., Rating D., Journel H., Chelly J., Goizet C., Lacombe D., Pedespan J.M., Echenne B., Tariverdian G., O'Rourke D., King M.D., Green A., van Kogelenberg M., Van Esch H., Gecz J., Hamel B.C., van Bokhoven H., de Brouwer A.P. Structural variation in Xq28:MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur. J. Hum. Genet. 2009, 17:444-453.
20. Smyk M., Obersztyn E., Nowakowska B. Different-sized duplications of Xq28, including MECP2, in three males with intellectual disability, absent or delayed speech, and recurrent infections. Neuropsychiatr. Genet. 2008, 5:799-806.
21. Jacob C.O., Zhu J., Armstrong D.L. Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc. Natl. Acad. Sci. U. S. A. 2009, 14:6256-6261.
22. Kirk E.P., Malaty-Brevaud V., Martini N., Lacoste C., Levy N., Maclean K., et al. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. Clin. Genet. 2009, 75:301-303.
23. Wolf I., Jenkins B.J., Liu V. Gab3, a new DOS/Gab family member, facilitates macrophage differentiation. Mol. Cell. Biol. 2002, 22:231-244.
24. Nemeth M.J., Curtis D.J., Kirby M.R., Garrett-Beal L.J., Seidel N.E., Cline A.P., Bodine D.M. Hmgb3: an HMG-box family member expressed in primitive hematopoietic cells that inhibits myeloid and B-cell differentiation. Blood 2003, 15:1298-1306.
25. Farb D.H., Steiger J.L., Martin S.C., Gravielle M.C., Gibbs T.T., Russek S.J. Mechanisms of GABAA and GABAB receptor gene expression. The GABA Receptors 2007, 178. Humana Press, (Chapter 8). S.J. Enna, H. Mohler (Eds.).
26. Yu S., Manson J., White S., Bourne A., Waddy H., Davis M., Haan E. X-linked myotubular myopathy in a family with three adult survivors. Clin. Genet. 2003, 64:148-152.
27. Zanoteli E., Oliveira A.S.B., Gabbai A.A., Laporte J., Kretz C., Mandel J.L., Buj-Bello A., Rocha J.C.C., Perez A.B.A. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. Am. J. Med. Genet. 2005, 134A:338-340.
28. Sugie K., Noguchi S., Kozuka Y. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J. Neuropathol. Exp. Neurol. 2005, 64:513-522.
29. Bione S., D'Adamo P., Maestrini E., Gedeon A.K., Bolhuis P.A., Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat. Genet. 1996, 12:385-389.
30. Ogata T., Laporte J., Fukami M. MAMLD1 (CXorf6): a new gene involved in hypospadias. Horm. Res. 2009, 71:245-252.
31. Unger S., Böhm D., Kaiser F.J. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat. Genet. 2008, 40:287-289.
32. Wei M.H., Karavanova I., Ivanov S.V. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. Hum. Genet. 1998, 103:355-364.
33. Frints S.G.M., Marynen P., Hartmann D., Fryns J.P., Steyaert J., Schachner M., et al. CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behaviour. Hum. Mol. Genet. 2003, 12:1463-1474.
34. Lee S., Takeda Y., Kawano H. Expression and regulation of a gene encoding neural recognition molecule NB-3 of the contactin/F3 subgroup in mouse brain. Gene 2000, 21:253-266.
35. Lammer E.J., Punglia D.R., Fuchs A.E., Rowe A.G., Cotter P.D. Inherited duplication of Xq27.2-4 qter: phenocopy of infantile Prader Willi syndrome. Clin. Dysmorphol. 2001, 10:141-144.
36. Monaghan K.G., Van Dyke D.L., Feldman G.L. Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. Am. J. Med. Genet. 1998, 80:227-231.