Confirmation of GRHL2 as the gene for the DFNA28 locus

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2060-2065

  Vona, Barbara ^a   Nanda, Indrajit ^a   Neuner, Cordula ^a   Müller, Tobias ^a   Haaf, Thomas ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Autosomal dominant hearing impairment; DFNA28; GRHL2; Haploinsufficiency; Postlingual hearing impairment; Progressive hearing loss

Indexed keywords

ADENOSINE; COMPLEMENTARY DNA; GUANIDINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUDITORY NERVOUS SYSTEM; DFNA28 GENE; DISEASE COURSE; DNA DETERMINATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC CONSERVATION; GRHL2 GENE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NERVOUS SYSTEM DEVELOPMENT; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; POSTLINGUAL HEARING IMPAIRMENT; PRIORITY JOURNAL; RNA SPLICING; STRUCTURE ACTIVITY RELATION;

AUTOSOMAL DOMINANT HEARING IMPAIRMENT; DFNA28; GRHL2; HAPLOINSUFFICIENCY; POSTLINGUAL HEARING IMPAIRMENT; PROGRESSIVE HEARING LOSS;

ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 84880752287     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36017     Document Type: Article

References (19)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
2. Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, Dörk T, Burge C, Gatti R. 2004. Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths. Hum Mutat 23:67-76.
3. Gregersen N, Bross P, Jørgensen MM, Corydon TJ, Andersen BS. 2000. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. J Inherit Metab Dis 23:441-447.
4. Han Y, Mu Y, Xiaoquan L, Xu P, Tong J, Liu Z, Ma T, Guodong Z, Yang S, Du J, Meng A. 2011. Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28. Hum Mol Genet 20:3213-3226.
5. Huang N, Lee I, Marcotte EM, Hurles ME. 2010. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 6:e1001154.
6. Ng PC, Henikoff S. 2001. Predicting deleterious amino acid substitutions. Genome Res 11:863-874.
7. Peters LM, Anderson DW, Griffith AJ, Grundfast KM, San Agustin TB, Madeo AC, Friedman TB, Morell RJ. 2002. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet 11:2877-2885.
8. R Development Core Team. 2012. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing.
9. Rifat Y, Parekh V, Wilanowski T, Hislop NR, Auden A, Ting SB, Cunningham JM, Jane SM. 2010. Regional neural tube closure defined by the grainy head-like transcription factors. Dev Biol 345:237-245.
10. Sarkar D. 2008. Lattice: Multivariate data visualization with R. New York: Springer.
11. Schell T, Kulozik AE, Hentze MW. 2002. Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway. Genome Biol 3: Reviews1006.1-1006.6.
12. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575-576.
13. Shepard PJ, Choi EA, Busch A, Hertel KJ. 2011. Efficient internal exon recognition depends on near equal contributions of the 3′ and 5′ splice sites. Nucleic Acids Res 39:8928-8937.
14. Van Camp G, Smith RJH. 2012. Hereditary hearing loss homepage. http://hereditaryhearingloss.org/.
15. Van Laer L, van Eyken E, Fransen E, Huyghe JR, Topsakal V, Hendrickx JJ, Hannula S, Maki-Torkko E, Jensen M, Demeester K, Baur M, Bonaconsa A, Mazzoli M, Espeso A, Verbruggen K, Huyghe J, Huygen P, Kunst S, Manninen M, Konings A, Diaz-Lacava AN, Steffens M, Wienker TF, Pyykkö I, Cremers CWRJ, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, van de Heyning PH, van Camp G. 2008. The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet 17:159-169.
16. Werth M, Walentin K, Aue A, Schönheit J, Wuebken A, Pode-Shakked N, Vilianovitch L, Erdmann B, Dekel B, Bader M, Barasch J, Rosenbauer F, Luft FC, Schmidt-Ott KM. 2010. The transcription factor grainyhead-like 2 regulates the molecular composition of the epithelial junctional complex. Development 137:3835-3845.
17. Wilanowski T, Tuckfield A, Cerruti L, O'Connell S, Saint R, Parekh V, Cunningham JM, Jane SM. 2002. A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead. Mech Dev 114:37-50.
18. Williams RS, Chasman DI, Hau DD, Hui B, Lau AY, Glover JNM. 2003. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 278:53007-53016.
19. Yeo G, Burge CB. 2004. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377-394.