International Journal of Pediatric Otorhinolaryngology
Volume 74, Issue 8 , Pages 878-882 , August 2010

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

  • Dennis C. Monks

      Affiliations

    • Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Center 402, Bronx, NY 10461, USA
  • ,
  • Arthee Jahangir

      Affiliations

    • Department of Microbiology and Immunology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
  • ,
  • Alan L. Shanske

      Affiliations

    • Center for Craniofacial Disorders, Children's Hospital at Montefiore Medical Center, 3415 Bainbridge Avenue, Bronx, NY 10467, USA
  • ,
  • Joy Samanich

      Affiliations

    • Center for Congenital Disorders, Department of Pediatrics, Montefiore Medical Center, 3415 Bainbridge Avenue, Bronx, NY 10467, USA
  • ,
  • Bernice E. Morrow

      Affiliations

    • Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Center 402, Bronx, NY 10461, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 718 678 1121; fax: +1 718 678 1016.
  • ,
  • Melanie Babcock

      Affiliations

    • Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Center 402, Bronx, NY 10461, USA

Received 11 March 2010 ,Revised 27 April 2010 ,Accepted 1 May 2010.

References 

  1. Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. Elements of morphology: standard terminology for the ear. Am. J. Med. Genet. A. 2009;149(January (1)):40–60
  2. Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J. Med. Genet. 2009;46(June (6)):361–369
  3. Shaw GM, Carmichael SL, Kaidarova Z, Harris JA. Epidemiologic characteristics of anotia and microtia in California, 1989–1997. Birth Defects Res. A: Clin. Mol. Teratol. 2004;70(July (7)):472–475
  4. Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int. J. Epidemiol. 1986;15(September (3)):364–368
  5. Harris J, Kallen B, Robert E. The epidemiology of anotia and microtia. J. Med. Genet. 1996;33(October (10)):809–813
  6. Stern RS, Rosa F, Baum C. Isotretinoin and pregnancy. J. Am. Acad. Dermatol. 1984;10(May (5 Pt 1)):851–854
  7. Lopez-Camelo JS, Orioli IM. Heterogeneous rates for birth defects in Latin America: hints on causality. Genet. Epidemiol. 1996;13(5):469–481
  8. Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J. Med. Genet. 1995;32(June (6)):453–457
  9. Trainor PA, Krumlauf R. Hox genes, neural crest cells and branchial arch patterning. Curr. Opin. Cell Biol. 2001;13(December (6)):698–705
  10. Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, et al. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am. J. Hum. Genet. 2008;82(April (4)):982–991
  11. Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat. Genet. 2005;37(October (10)):1035–1037
  12. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc. Natl. Acad. Sci. U.S.A. 2004;101(May (21)):8090–8095
  13. Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am. J. Hum. Genet. 2007;80(April (4)):800–804
  14. Kumar S, Kimberling WJ, Weston MD, Schaefer BG, Berg MA, Marres HA, et al. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum. Mutat. 1998;11(6):443–449
  15. Kutejova E, Engist B, Self M, Oliver G, Kirilenko P, Bobola N. Six2 functions redundantly immediately downstream of Hoxa2. Development. 2008;135(April (8)):1463–1470
  16. Tekin M, Hismi BO, Fitoz S, Ozdag H, Cengiz FB, Sirmaci A, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am. J. Hum. Genet. 2007;80(February (2)):338–344
  17. ten Berge D, Brouwer A, Korving J, Martin JF, Meijlink F. Prx1 and Prx2 in skeletogenesis: roles in the craniofacial region, inner ear and limbs. Development. 1998;125(October (19)):3831–3842
  18. Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, et al. Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am. J. Hum. Genet. 2008;82(January (1)):181–187
  19. Guimbellot JS, Pyle LC, Spencer EG, Hurtado D, Johnson K, Callens T, et al. Role of PRKRA in the development of isolated microtia. In: 58th Annual Meeting of the American Society of Human Genetics. Philadelphia, Pennsylvania. 2008;
  20. Okajima H, Takeichi Y, Umeda K, Baba S. Clinical analysis of 592 patients with microtia. Acta Otolaryngol. Suppl. 1996;525:18–24
  21. Sanchez O, Mendez JR, Gomez E, Guerra D. Clinico-epidemiologic study of microtia. Invest. Clin. 1997;38(December (4)):203–217
  22. Suutarla S, Rautio J, Ritvanen A, Ala-Mello S, Jero J, Klockars T. Microtia in Finland: comparison of characteristics in different populations. Int. J. Pediatr. Otorhinolaryngol. 2007;71(August (8)):1211–1217
  23. Ramadhani T, Short V, Canfield MA, Waller DK, Correa A, Royale M, et al. Are birth defects among Hispanics related to maternal nativity or number of years lived in the United States?. Birth Defects Res. A: Clin. Mol. Teratol. 2009;85(September (9)):755–763
  24. Hewetson A, Hendrix EC, Mansharamani M, Lee VH, Chilton BS. Identification of the RUSH consensus-binding site by cyclic amplification and selection of targets: demonstration that RUSH mediates the ability of prolactin to augment progesterone-dependent gene expression. Mol. Endocrinol. 2002;16(September (9)):2101–2112

PII: S0165-5876(10)00214-4

doi: 10.1016/j.ijporl.2010.05.004

International Journal of Pediatric Otorhinolaryngology
Volume 74, Issue 8 , Pages 878-882 , August 2010