HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1347-1351

  Brown, Kerry K ^a,b   Viana, Lucas M ^a,c,d   Helwig, Cecilia C ^e   Artunduaga, Maria A ^f   Quintanilla Dieck, Lourdes ^g   Jarrin, Patricia ^h   Osorno, Gabriel ⁱ   Mcdonough, Barbara ^a,b   Depalma, Steven R ^a,j   Eavey, Roland D ^k   Seidman, Jonathan G ^a,j   Seidman, Christine E ^a,b,j  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^d UNIVERSITY OF BRASILIA   (Brazil)

^e GEISINGER MEDICAL CENTER   (United States)

^f UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h Hospital Un Canto a la Vida   (Ecuador)

ⁱ UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^k VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

Exome sequencing; Hearing loss; HOXA2; Microtia

Indexed keywords

HOXA2 PROTEIN; PROTEIN VARIANT; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONTROLLED STUDY; EXOME; FAMILY HISTORY; GENE SEQUENCE; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HUMAN; MICROTIA; MIDDLE EAR; MIXED HEARING LOSS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EXOME SEQUENCING; HEARING LOSS; HOXA2; MICROTIA;

CONGENITAL ABNORMALITIES; EAR; EAR, EXTERNAL; EXOME; FEMALE; GENES, DOMINANT; HAPLOINSUFFICIENCY; HEARING LOSS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMEODOMAIN PROTEINS; HUMANS; MALE; PEDIGREE; PHENOTYPE;

EID: 84884514417     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22367     Document Type: Article

References (18)

1. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, et al. 1997. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157-164.
2. Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G. 2008. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am J Hum Genet 82:982-991.
3. Canfield MA, Langlois PH, Nguyen LM, Scheuerle AE. 2009. Epidemiologic features and clinical subgroups of anotia/microtia in Texas. Birth Defects Res A Clin Mol Teratol 85:905-913.
4. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, et al. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498.
5. Gendron-Maguire M, Mallo M, Zhang M, Gridley T. 1993. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 75:1317-1331.
6. Grammatopoulos GA, Bell E, Toole L, Lumsden A, Tucker AS. 2000. Homeotic transformation of branchial arch identity after Hoxa2 overexpression. Development 127:5355-5365.
7. Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE. 2009. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods 6:507-510.
8. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, et al. 2012. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366:619-628.
9. Hoskins BE, Cramer CH II, Silvius D, Zou D, Raymond RM Jr, Orten DJ, Kimberling WJ, Smith RJH, Weil D, Petit C, Otto EA, Xu PX, et al. 2007. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 80:800-804.
10. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. 2011. Microtia: epidemiology and genetics. Am J Med Genet A 158A:124-139.
11. Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. 1995. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet 32:453-457.
12. Ohnemus S, Bobola N, Kanzler B, Mallo M. 2001. Different levels of Hoxa2 are required for particular developmental processes. Mech Dev 108:135-147.
13. Rijli FM, Mark M, Lakkaraju S, Dierich A, Dollé P, Chambon P. 1993. A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene. Cell 75:1333-1349.
14. Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL. 2008. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am J Hum Genet 82:1178-1184.
15. Suutarla S, Rautio J, Ritvanen A, Ala-Mello S, Jero J, Klockars T. 2007. Microtia in Finland: comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol 71:1211-1217.
16. Tekin M, Hişmi BO, Fitoz S, Ozdaǧ H, Cengiz FB, Sirmaci A, Aslan I, Inceoǧlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N. 2007. 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 80:338-344.
17. Treacher Collins Syndrome Collaborative Group. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136.
18. Zhang QG, Zhang J, Yu P, Shen H. 2009. Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007. Plast Reconstr Surg 124:1157-1164.