Novel and recurrent non-truncating mutations of the MITF basic domain: Genotypic and phenotypic variations in Waardenburg and Tietz syndromes

European Journal of Human Genetics

Volumn 20, Issue 5, 2012, Pages 584-587

  Léger, Sandy ^a   Balguerie, Xavier ^a   Goldenberg, Alice ^b   Drouin Garraud, Valérie ^b   Cabot, Annick ^b   Amstutz Montadert, Isabelle ^b   Young, Paul ^c   Joly, Pascal ^a   Bodereau, Virginie ^d   Holder Espinasse, Muriel ^e   Jamieson, Robyn V ^f   Krause, Amanda ^g   Chen, Hongsheng ^h   Baumann, Clarisse ⁱ   Nunes, Luis ^j,k   Dollfus, Hélène ^l   Goossens, Michel ^d,m,n   Pingault, Véronique ^d,m,n  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b HÔPITAL CHARLES NICOLLE   (France)

^c Cabinet Privé de Dermatologie   (France)

^d HENRI MONDOR HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF SYDNEY   (Australia)

^g UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^h CENTRAL SOUTH UNIVERSITY   (China)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j HOSPITAL DONA ESTEFÂNIA   (Portugal)

^k UNIVERSITY OF LISBON   (Portugal)

^l HÔPITAL DE HAUTEPIERRE   (France)

^m INSERM U955   (France)

ⁿ FACULTÉ DE MÉDECINE   (France)

more..

Author keywords

freckles; MITF; pigmentation; Tietz syndrome; Waardenburg syndrome

Indexed keywords

HELIX LOOP HELIX PROTEIN; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR;

ADULT; ARTICLE; ASIAN; CHILD; CLINICAL ARTICLE; DEPIGMENTATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAIR; HEARING LOSS; HUMAN; HYPOPIGMENTATION; LENTIGO; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SKIN PIGMENTATION; SUN EXPOSURE; TIETZE SYNDROME; WAARDENBURG SYNDROME;

ADULT; ALBINISM, OCULOCUTANEOUS; CHILD, PRESCHOOL; DEAFNESS; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; PHENOTYPE; WAARDENBURG'S SYNDROME;

IRIS SPURIA;

EID: 84862823103     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.234     Document Type: Article

References (27)

1. Hershey CL, Fisher DE: Genomic analysis of the microphthalmia locus and identification of the MITF-J/Mitf-J isoform. Gene 2005; 347: 73-82. (Pubitemid 40348702)
2. Read AP, Newton VE: Waardenburg syndrome. J Med Genet 1997; 34: 656-665. (Pubitemid 27356884)
3. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N: Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010; 31: 391-406.
4. Tietz W: A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Am J Hum Genet 1963; 15: 259-264.
5. Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM: Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol 1998; 7: 17-20.
6. Smith SD, Kelley PM, Kenyon JB, Hoover D: Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 2000; 37: 446-448. (Pubitemid 30386737)
7. Tassabehji M, Newton VE, Liu XZ et al: The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 1995; 4: 2131-2137.
8. Izumi K, Kohta T, Kimura Y et al: Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. Clin Genet 2008; 74: 93-95. (Pubitemid 351833825)
9. Shigemura T, Shiohara M, Tanaka M, Takeuchi K, Koike K: Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. J Pediatr Hematol Oncol 2010; 32: 442-447.
10. Chiang PW, Spector E, McGregor TL: Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. Am J Med Genet A 2009; 149A: 2739-2744.
11. Tassabehji M, Newton VE, Read AP: Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994; 8: 251-255. (Pubitemid 24338736)
12. Niel F, Martin J, Dastot-Le Moal F et al: Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004; 41: e118.
13. Fuse N, Yasumoto K, Suzuki H, Takahashi K, Shibahara S: Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun 1996; 219: 702-707. (Pubitemid 26106749)
14. Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR: Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem 2000; 275: 37978-37983. (Pubitemid 32004919)
15. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C: Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37: e67.
16. Guex N, Peitsch MC: SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18: 2714-2723. (Pubitemid 28059943)
17. Chen H, Jiang L, Xie Z et al: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun 2010; 397: 70-74.
18. Parraga A, Bellsolell L, Ferre-D'Amare AR, Burley SK: Co-crystal structure of sterol regulatory element binding protein 1a at 2.3 A resolution. Structure 1998; 6: 661-672. (Pubitemid 28258118)
19. Moore KJ: Insight into the microphthalmia gene. Trends Genet 1995; 11: 442-448.
20. Chen J, Yang SZ, Liu J et al: [Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. Yi Chuan 2008; 30: 433-438.
21. Bard LA: Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. Arch Ophthalmol 1978; 96: 1193-1198.
22. Morell R, Spritz RA, Ho L et al: Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 1997; 6: 659-664. (Pubitemid 27199057)
23. Bastiaens M, ter Huurne J, Gruis N et al: The melanocortin-1-receptor gene is the major freckle gene. Hum Mol Genet 2001; 10: 1701-1708. (Pubitemid 32776300)
24. Gerstenblith MR, Goldstein AM, Fargnoli MC, Peris K, Landi MT: Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat 2007; 28: 495-505. (Pubitemid 46668608)
25. Sulem P, Gudbjartsson DF, Stacey SN et al: Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 2007; 39: 1443-1452. (Pubitemid 350191337)
26. Delleman JW, Hageman MJ: Ophthalmological findings in 34 patients with Waardenburg syndrome. J Pediatr Ophthalmol Strabismus 1978; 15: 341-345. (Pubitemid 9018855)
27. Schwarzbraun T, Ofner L, Gillessen-Kaesbach G et al: A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes. Am J Med Genet A 2007; 143: 619-624. (Pubitemid 46348908)