Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 211-217

  Haddad, Marie Reine ^a,b   Mignon Ravix, Cécile ^a,b   Cacciagli, Pierre ^c   Mégarbané, André ^d,e   Villard, Laurent ^a,b  

^a INSERM   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c TIMONE HOSPITAL   (France)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e Institut Jerome Lejeune   (France)

Author keywords

Chromosomal breakpoint; FER; Fluorescence in situ hybridization; Mental retardation; Translocation

Indexed keywords

PROTEIN TYROSINE KINASE; RNA;

ABDOMINAL RADIOGRAPHY; ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 18; CHROMOSOME 5; CHROMOSOME 5Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLINODACTYLY; CONTROLLED STUDY; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FER GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; HUMAN; HUMAN CELL; HYPERTELORISM; KARYOTYPE 46,XX; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

EID: 67650621602     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.04.002     Document Type: Article

References (30)

1. Allard P., Zoubeidi A., Nguyen L.T., Tessier S., Tanguay S., Chevrette M., Aprikian A., and Chevalier S. Links between Fer tyrosine kinase expression levels and prostate cell proliferation. Mol. Cell. Endocrinol. 159 (2000) 63-77
2. Baart E.B., Martini E., and Van Opstal D. Screening for aneuploidies of ten different chromosomes in two rounds of FISH: a short and reliable protocol. Prenat. Diagn. 24 (2004) 955-961
3. Baptista J., Mercer C., Prigmore E., Gribble S.M., Carter N.P., Maloney V., Thomas S., Jacobs P.A., and Crolla J.A. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am. J. Hum. Genet. 82 (2008) 927-936
4. Cantagrel V., Lossi A.M., Boulanger S., Depetris D., Mattei M.G., Gecz J., Schwartz C.E., Van Maldergem L., and Villard L. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. J. Med. Genet. 41 (2004) 736-742
5. Cantagrel V., Lossi A.M., Lisgo S., Missirian C., Borges A., Philip N., Fernandez C., Cardoso C., Figarella-Branger D., Moncla A., Lindsay S., Dobyns W.B., and Villard L. Truncation of NHEJ1 in a patient with polymicrogyria. Hum. Mutat. 28 (2007) 356-364
6. Carmel M., Shpungin S., and Nir U. Role of positive and negative regulation in modulation of the Fer promoter activity. Gene 241 (2000) 87-99
7. Courtens W., Wuyts W., Scheers S., Van Luijk R., Reyniers E., Rooms L., Ceulemans B., Kooy F., and Wauters J. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. Eur. J. Med. Genet. 49 (2006) 402-413
8. Craig A.W., Zirngibl R., Williams K., Cole L.A., and Greer P.A. Mice devoid of fer protein-tyrosine kinase activity are viable and fertile but display reduced cortactin phosphorylation. Mol. Cell Biol. 21 (2001) 603-613
9. De Pater J.M., Poot M., Beemer F.A., Bijlsma J.B., Hack W.W., Van Dam W.M., Eleveld M.J., Loneus W.H., and Engelen J.J. Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18. Eur. J. Med. Genet. 49 (2006) 19-27
10. Di Meo G.P., Perucatti A., Floriot S., Incarnato D., Rullo R., Caputi Jambrenghi A., Ferretti L., Vonghia G., Cribiu E., Eggen A., and Iannuzzi L. Chromosome evolution and improved cytogenetic maps of the Y chromosome in cattle, zebu, river buffalo, sheep and goat. Chromosome Res. 13 (2005) 349-355
11. Fantes J.A., Boland E., Ramsay J., Donnai D., Splitt M., Goodship J.A., Stewart H., Whiteford M., Gautier P., Harewood L., Holloway S., Sharkey F., Maher E., van Heyningen V., Clayton-Smith J., Fitzpatrick D.R., and Black G.C. FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am. J. Hum. Genet. 82 (2008) 916-926
12. Gajecka M., Glotzbach C.D., Jarmuz M., Ballif B.C., and Shaffer L.G. Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers. Eur. J. Hum. Genet. 14 (2006) 1255-1262
13. Greer P. Closing in on the biological functions of Fps/Fes and Fer. Nat. Rev. Mol. Cell Biol. 3 (2002) 278-289
14. Hao Q.L., Heisterkamp N., and Groffen J. Isolation and sequence analysis of a novel human tyrosine kinase gene. Mol. Cell Biol. 9 (1989) 1587-1593
15. Hwang K.S., Pearson M.A., Stankiewicz P., Lennon P.A., Cooper M.L., Wu J., Ou Z., Cai W.W., Patel A., and Cheung S.W. Cryptic unbalanced translocation (17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am. J. Med. Genet. A 137 (2005) 88-93
16. Kleinjan D.J., and van Heyningen V. Position effect in human genetic disease. Hum. Mol. Genet. 7 (1998) 1611-1618 (Review)
17. Kools P., Van Imschoot G., and van Roy F. Characterization of three novel human cadherin genes (CDH7, CDH19, and CDH20) clustered on chromosome 18q22-q23 and with high homology to chicken cadherin-7. Genomics 68 (2000) 283-295
18. Ling N.R., and Lowe J.A. Changes in the phenotype and immunoglobulin secretion of human B cells following co-culture with cells of an EBV+ lymphoblastoid line or fusion with mouse plasmacytoma cells. Studies in short-term and long-term culture. Clin. Exp. Immunol. 75 (1989) 311-316
19. Linnankivi T., Tienari P., Somer M., Kähkönen M., Lönnqvist T., Valanne L., and Pihko H. 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals. Am. J. Med. Genet. A 140 (2006) 331-339
20. Luciani J.J., Depetris D., Usson Y., Metzler-Guillemain C., Mignon-Ravix C., Mitchell M.J., Megarbane A., Sarda P., Sirma H., Moncla A., Feunteun J., and Mattei M.G. PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. J. Cell Sci. 119 (2006) 2518-2531
21. McEntagart M., Carey A., Breen C., McQuaid S., Stallings R.L., Green A.J., and King M.D. Molecular characterisation of a proximal chromosome 18q deletion. J. Med. Genet. 38 (2001) 128-129
22. Mignon-Ravix C., Depetris D., Luciani J.J., Cuoco C., Krajewska-Walasek M., Missirian C., Collignon P., Delobel B., Croquette M.F., Moncla A., Kroisel P.M., and Mattei M.G. Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. Eur. J. Hum. Genet. 15 (2007) 432-440
23. Moore R., Champeval D., Denat L., Tan S.S., Faure F., Julien-Grille S., and Larue L. Involvement of cadherins 7 and 20 in mouse embryogenesis and melanocyte transformation. Oncogene 23 (2004) 6726-6735
24. Morris C., Heisterkamp N., Hao Q.L., Testa J.R., and Groffen J. The human tyrosine kinase gene (FER) maps to chromosome 5 and is deleted in myeloid leukemias with a del(5q). Cytogenet. Cell Genet. 53 (1990) 196-200
25. Ofner L., Raedle J., Windpassinger C., Schwarzbraun T., Kroisel P.M., Wagner K., and Petek E. Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene. J. Hum. Genet. 51 (2006) 141-146
26. Raedle J., Friedl W., Engels H., Koenig R., Trojan J., and Zeuzem S. A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. Am. J. Gastroenterol. 96 (2001) 3016-3020
27. Semerci C.N., Bahce M., Atik F., Candemir Z., Kiraz I.K., Zorlu P., and Gül D. Partial trisomy 18q11.2qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization. Ann. Genet. 47 (2004) 393-398
28. Shapovalova Z., Tabunshchyk K., and Greer P.A. The Fer tyrosine kinase regulates an axon retraction response to Semaphorin 3A in dorsal root ganglion neurons. BMC Dev. Biol. 7 (2007) 133
29. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49 (1991) 995-1013
30. Zogopoulos G., Ha K.C., Naqib F., Moore S., Kim H., Montpetit A., Robidoux F., Lapamme P., Cotterchio M., Greenwood C., Scherer S.W., Zanke B., Hudson T.J., Bader G.D., and Gallinger S. Germ-line DNA copy number variation frequencies in a large North American population. Hum. Genet. 122 (2007) 345-353