A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

American Journal of Medical Genetics, Part A

Volumn 143, Issue 6, 2007, Pages 619-624

  Schwarzbraun, Thomas ^a   Ofner, Lisa ^a   Gillessen Kaesbach, Gabriele ^b   Schaperdoth, Barbara ^b   Preisegger, Karl Heinz ^a   Windpassinger, Christian ^a   Wagner, Klaus ^a   Petek, Erwin ^a   Kroisel, Peter M ^a,c  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3P; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; MALE; MITF GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; TIETZE SYNDROME; WAARDENBURG SYNDROME; WAARDENBURG TYPE IIA SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; KARYOTYPING; MALE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MICROSATELLITE REPEATS; PEDIGREE; PIGMENTATION DISORDERS; WAARDENBURG'S SYNDROME;

EID: 33847347222     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31627     Document Type: Article

References (36)

1. Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. 1998. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol 7:17-20.
2. Asher JH Jr, Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27:618-626.
3. Bao Y, Kishnani P, Wu JY, Chen YT. 1996. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 97:941-948.
4. Brown P, Marafioti T, Kusec R, Banham AH. 2005. The FOXP1 transcription factor is expressed in the majority of follicular lymphomas but is rarely expressed in classical and lymphocyte predominant Hodgkin's lymphoma. J Mol Histol 36:249-256.
5. Carreira S, Goodall J, Aksan I, La Rocca SA, Galibert MD, Denat L, Larue L, Goding CR. 2005. Mitf cooperates with Rb1 and activates p21(Cip1) expression to regulate cell cycle progression. Nature 433:764-769.
6. Crispino B, Cardoso H, Mimbacas A, Mendez V. 1995. Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting. Am J Med Genet 55:27-29.
7. Cross NA, Ganesh A, Parpia M, Murray AK, Rennie IG, Sisley K. 2005. Multiple locations on chromosome 3 are the targets of specific deletions in uveal melanoma. Eye (in press).
8. Elson E, Perveen R, Donnai D, Wall S, Black GC. 2002. De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39:804-806.
9. Fox SB, Brown P, Han C, Ashe S, Leek RD, Harris AL, Banham AH. 2004. Expression of the forkhead transcription factor FOXP1 is associated with estrogen receptor alpha and improved survival in primary human breast carcinomas. Clin Cancer Res 10:3521-3527.
10. Garraway LA, Widlund HR, Rubin MA, Getz G, Berger AJ, Ramaswamy S, Beroukhim R, Milner DA, Granter SR, Du J, Lee C, Wagner SN, Li C, Golub TR, Rimm DL, Meyerson ML, Fisher DE, Sellers WR. 2005. Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature 436:117-122.
11. Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kaariainen H, Kere J. 2005. The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet 4:e50.
12. Hertz JM, Coerdt W, Hahnemann N, Schwartz M. 1988. Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11 → p14.2). Hum Genet 79:389-391.
13. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Bieseeker LG. 2005. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76:609-622.
14. Kang S, Graham JM Jr, Olney AH, Biesecker LG. 1997. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 15:266-268.
15. Kardas I, Mrozek K, Babinska M, Krajka K, Hadaczek P, Lubinski J, Roszkiewicz A, Kuziemska E, Limon J. 2005. Cytogenetic and molecular findings in 75 clear cell renal cell carcinomas. Oncol Rep 13:949-956.
16. Kidd T, Brose K, Mitchell KJ, Fetter RD, Tessier-Lavigne M, Goodman CS, Tear G. 1998. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. Cell 92:205-215.
17. Lai CS, Fisher SF, Hurst JA, Vargha-Khadem F, Monaco AP. 2001. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519-523.
18. Lalwani AK, Attaie A, Randolph FT, Deshmukh D, Wang C, Mhatre A, Wilcox E. 1998. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. Am J Med Genet 80:406-409.
19. Lindberg L, Pelto K, Borgstrom GH. 1992. Familial pericentric inversion (3)(p12q24). Hum Genet 89:433-436.
20. Morell R, Spritz RA, Ho L, Pierponi J, Guo W, Friedman TB, Asher JH Jr. 1997. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Molec Genet 6:659-664.
21. Naritomi K, Hirayama K, Sameshinia K, Ohdo S. 1988. Proximal 3p deletion: Case report and review of the literature. Acta Paediatr Jpn 30:78-83.
22. Neri G, Reynolds JF, Westphal J, Hinz J, Daniel A. 1984. Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome. Am J Med Genet 19:189-193.
23. Ng KL, Li JD, Cheng MY, Leslie FM, Lee AG, Zhou QY. 2005. Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling. Science 308:1923-1927.
24. Petek E, Kroisel PM, Wagner K. 1997. Isolation of site specific probes from chimeric YACs. BioTechniques 23:72-77.
25. Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel PM. 2003. Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies. J Hum Genet 48:283-287.
26. Pfeiffer RA, Rauch A, Ulmer R, Beinder E, Trautmann U. 1998. Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31). Ann Genet 41:17-21.
27. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: A laboratory manual. 2nd ed. New York: Cold Spring Harbor Laboratory Press.
28. Sichong Z, Bui TH, Castro I, Lselius L, Hakansson S, Lundmark KM. 1981. A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique. Hum Genet 59:178-181.
29. Smith SD, Kelley PM, Kenyon JB, Hoover D. 2000. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 37:446-448.
30. Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H. 1994. Cloning of MITF, the human homolog, of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Molec Genet 3:553-557.
31. Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA, Aaronson SA, Miki T. 1996. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocytes characteristics. Nat Genet 14:50-54.
32. Tassabehji M, Newton VE, Read AP. 1994. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-255.
33. Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Keardon W, Rice JC, Trembath R, Wieacker P, Whiteford M, Winter R, Read AP. 1995. The mutational spectrum in Waardenburg syndrome. Hum Molec Genet 4:2131-2137.
34. Teramitsu I, Kudo LC, London SE, Geschwind DH, White SA. 2004. Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. J Neurosci 24:3:152-3163.
35. Tietz W. 1963. A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet 15:259-264.
36. Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G. 1997. A patient with interstitial deletion of the short arm of chromosome 3 (pter → p21.2::p.12 → qter) and a CHARGE-like phenotype. Am J Med Genet 69:413-417.