A Dominant Mutation in the Stereocilia-Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment

Human Mutation

Volumn 35, Issue 7, 2014, Pages 814-818

  Zhang, Luping ^a,b,c   Hu, Lingxiang ^a,b   Chai, Yongchuan ^a,b   Pang, Xiuhong ^a,b   Yang, Tao ^a,b   Wu, Hao ^a,b  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c NANTONG UNIVERSITY   (China)

Author keywords

Autosomal dominant; Hearing impairment; Hearing loss; Nonsyndromic; Stereocilia; TBC1D24

Indexed keywords

LEUCINE; SERINE; CARRIER PROTEIN; TBC1D24 PROTEIN, HUMAN;

ANIMAL TISSUE; ARTICLE; CHROMOSOME 16P; COCHLEA; DOMINANT INHERITANCE; EXOME; FAMILY STUDY; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC VARIABILITY; HAIR CELL; HEARING IMPAIRMENT; HETEROZYGOTE; LINKAGE ANALYSIS; MOUSE; NONHUMAN; PERINATAL PERIOD; PRIORITY JOURNAL; SPIRAL GANGLION; STEREOCILIUM; TBC1D24 GENE; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHILD; DEAFNESS; DOMINANT GENE; FEMALE; GENETIC LINKAGE; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE ALIGNMENT; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; CARRIER PROTEINS; CHILD; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE EXPRESSION; GENES, DOMINANT; GENETIC LINKAGE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; STEREOCILIA; YOUNG ADULT;

EID: 84901985021     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22558     Document Type: Article

References (11)

1. Ali RA, Rehman AU, Khan SN, Husnain T, Riazuddin S, Friedman TB, Ahmed ZM. 2012. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. Clin Genet 81(5):498-500.
2. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Felix TM, van den Ende J, Wisniewska M, Kayserili H, et al. 2014. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13(1):44-58.
3. Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, et al. 2010. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 87(3):371-375.
4. Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A et al. 2010. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 87(3):365-370.
5. Guven A, Tolun A. 2013. TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet 50(3):199-202.
6. Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. 2011. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell 22(24):4776-4786.
7. Mhaske PV, Levit NA, Li L, Wang HZ, Lee JR, Shuja Z, Brink PR, White TW. 2013. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol 304(12):C1150-C1158.
8. Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A. 2013. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat 34(6):869-872.
9. Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, et al. 2014. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94(1):144-152.
10. Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, et al. 2013. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93(1):132-140.
11. von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nurnberg G, Stiller B, Volk AE, Borck G, Hong JS, et al. 2012. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet 91(5):919-927.