Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Human Genetics

Volumn 130, Issue 6, 2011, Pages 759-765

  Rehman, Atteeq U ^a   Gul, Khitab ^b   Morell, Robert J ^a   Lee, Kwanghyuk ^c   Ahmed, Zubair M ^d   Riazuddin, Saima ^d   Ali, Rana A ^b   Shahzad, Mohsin ^b   Jaleel, Ateeq Ul ^b   Andrade, Paula B ^c   Khan, Shaheen N ^b   Khan, Saadullah ^e   Brewer, Carmen C ^a   Ahmad, Wasim ^e   Leal, Suzanne M ^c   Riazuddin, Sheikh ^f   Friedman, Thomas B ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^e QUAID I AZAM UNIVERSITY   (Pakistan)

^f UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19P; CHROMOSOME MAP; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GIPC3 GENE; HAPLOTYPE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC LOCI; HAPLOTYPES; HEARING LOSS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

MUS;

EID: 82555174405     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1018-5     Document Type: Article

References (21)

1. ZM Ahmed RJ Morell S Riazuddin A Gropman S Shaukat MM Ahmad SA Mohiddin L Fananapazir RC Caruso T Husnain SN Khan AJ Griffith TB Friedman ER Wilcox 2003 Mutations of MYO6 are associated with recessive deafness, DFNB37 Am J Hum Genet 72 5 1315 1322 12687499 10.1086/375122 1:CAS:528:DC%2BD3sXjslagu7g%3D (Pubitemid 36530020)
2. Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB (2007) The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum Genet 122(5):445-450 (Pubitemid 350148955)
3. KB Avraham T Hasson KP Steel DM Kingsley LB Russell MS Mooseker NG Copeland NA Jenkins 1995 The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells Nat Genet 11 4 369 375 7493015 10.1038/ng1295-369 1:CAS:528:DyaK2MXpvVCksL4%3D
4. LL Cavalli-Sforza MC King 1986 Detecting linkage for genetically heterogeneous diseases and detecting heterogeneity with linkage data Am J Hum Genet 38 5 599 616 3459352 1:STN:280:DyaL283jvFahtA%3D%3D (Pubitemid 16057808)
5. N Charizopoulou A Lelli M Schraders K Ray MS Hildebrand A Ramesh CR Srisailapathy J Oostrik RJ Admiraal HR Neely JR Latoche RJ Smith JK Northup H Kremer JR Holt K Noben-Trauth 2011 Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human Nat Commun 2 201 21326233 10.1038/ncomms1200
6. A Chen S Wayne A Bell A Ramesh CR Srisailapathy DA Scott VC Sheffield P Van Hauwe RI Zbar J Ashley M Lovett G Van Camp RJ Smith 1997 New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p Am J Med Genet 71 4 467 471 9286457 10.1002/(SICI)1096-8628(19970905)71: 4<467::AID-AJMG18>3.0.CO;2-E 1:STN:280:DyaK2svjt1Gksw%3D%3D (Pubitemid 27371849)
7. AA Dror KB Avraham 2009 Hearing loss: mechanisms revealed by genetics and cell biology Annu Rev Genet 43 411 437 19694516 10.1146/annurev-genet-102108- 134135 1:CAS:528:DC%2BD1MXhsF2qtrbM
8. TB Friedman AJ Griffith 2003 Human nonsyndromic sensorineural deafness Annu Rev Genomics Hum Genet 4 341 402 14527306 10.1146/annurev.genom.4.070802. 110347 1:CAS:528:DC%2BD3sXptFWmtbY%3D (Pubitemid 37392928)
9. J Grimwood LA Gordon A Olsen A Terry J Schmutz J Lamerdin U Hellsten D Goodstein O Couronne M Tran-Gyamfi A Aerts M Altherr L Ashworth E Bajorek S Black E Branscomb S Caenepeel A Carrano C Caoile YM Chan M Christensen CA Cleland A Copeland E Dalin P Dehal M Denys JC Detter J Escobar D Flowers D Fotopulos C Garcia AM Georgescu T Glavina M Gomez E Gonzales M Groza N Hammon T Hawkins L Haydu I Ho W Huang S Israni J Jett K Kadner H Kimball A Kobayashi V Larionov SH Leem F Lopez Y Lou S Lowry S Malfatti D Martinez P McCready C Medina J Morgan K Nelson M Nolan I Ovcharenko S Pitluck M Pollard AP Popkie P Predki G Quan L Ramirez S Rash J Retterer A Rodriguez S Rogers A Salamov A Salazar X She D Smith T Slezak V Solovyev N Thayer H Tice M Tsai A Ustaszewska N Vo M Wagner J Wheeler K Wu G Xie J Yang I Dubchak TS Furey P DeJong M Dickson D Gordon EE Eichler LA Pennacchio P Richardson L Stubbs DS Rokhsar RM Myers EM Rubin SM Lucas 2004 The DNA sequence and biology of human chromosome 19 Nature 428 6982 529 535 15057824 10.1038/nature02399 1:CAS:528:DC%2BD2cXis1Gksrc%3D (Pubitemid 38480531)
10. N Hilgert RJ Smith G Van Camp 2009 Function and expression pattern of nonsyndromic deafness genes Curr Mol Med 9 5 546 564 19601806 10.2174/156652409788488775 1:CAS:528:DC%2BD1MXntVCjur0%3D
11. M Katoh 2002 GIPC gene family Int J Mol Med 9 6 585 589 12011974 1:CAS:528:DC%2BD38XksVSrtLw%3D
12. Y Li N Vinckenbosch G Tian E Huerta-Sanchez T Jiang H Jiang A Albrechtsen G Andersen H Cao T Korneliussen N Grarup Y Guo I Hellman X Jin Q Li J Liu X Liu T Sparso M Tang H Wu R Wu C Yu H Zheng A Astrup L Bolund J Holmkvist T Jorgensen K Kristiansen O Schmitz TW Schwartz X Zhang R Li H Yang J Wang T Hansen O Pedersen R Nielsen 2010 Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants Nat Genet 42 11 969 972 20890277 10.1038/ng.680 1:CAS:528:DC%2BC3cXht1elu7rP
13. MacArthur DG, Tyler-Smith C (2010) Loss-of-function variants in the genomes of healthy humans. Hum Mol Genet 19(R2):R125-R130
14. CC Morton WE Nance 2006 Newborn hearing screening-a silent revolution N Engl J Med 354 20 2151 2164 16707752 10.1056/NEJMra050700 1:CAS:528: DC%2BD28XkslCrs7o%3D (Pubitemid 43736615)
15. HJ Muller 1950 Our load of mutations Am J Hum Genet 2 2 111 176 14771033 1:STN:280:DyaG3M%2FgtVGrsQ%3D%3D
16. P Nicholson H Yepiskoposyan S Metze R Zamudio Orozco N Kleinschmidt O Muhlemann 2010 Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors Cell Mol Life Sci 67 5 677 700 19859661 10.1007/s00018-009-0177-1 1:CAS:528:DC%2BC3cXitFCksbg%3D
17. AU Rehman RJ Morell IA Belyantseva SY Khan ET Boger M Shahzad ZM Ahmed S Riazuddin SN Khan TB Friedman 2010 Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 Am J Hum Genet 86 3 378 388 20170899 10.1016/j.ajhg.2010.01.030 1:CAS:528:DC%2BC3cXlt1KntLg%3D
18. T Saitoh T Mine M Katoh 2002 Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2 Int J Oncol 20 3 577 582 11836571 1:CAS:528:DC%2BD38XitVCgsr8%3D
19. Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE Jr, Wambangco MA, Ahmad W, Leal SM (2006) DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet 120(1):85-92
20. T Walsh H Shahin T Elkan-Miller MK Lee AM Thornton W Roeb A Abu Rayyan S Loulus KB Avraham MC King M Kanaan 2010 Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82 Am J Hum Genet 87 1 90 94 20602914 10.1016/j.ajhg.2010.05.010 1:CAS:528:DC%2BC3cXpsFegsLw%3D
21. B Yngvadottir Y Xue S Searle S Hunt M Delgado J Morrison P Whittaker P Deloukas C Tyler-Smith 2009 A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs Am J Hum Genet 84 2 224 234 19200524 10.1016/j.ajhg.2009.01.008 1:CAS:528:DC%2BD1MXisFCrtLw%3D