A Novel Deletion in SMPX Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

Human Mutation

Volumn 34, Issue 1, 2013, Pages 66-69

  Abdelfatah, Nelly ^a   Merner, Nancy ^a   Houston, Jim ^a   Benteau, Tammy ^a   Griffin, Anne ^a   Doucette, Lance ^a   Stockley, Tracy ^b   Lauzon, Julie L ^c   Young, Terry Lynn ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

Author keywords

DFNX4; Founder effect; SMPX; SNHL; X linked hearing loss

Indexed keywords

ARTICLE; ELECTROPHORESIS; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMPX GENE; X CHROMOSOME;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETIC DISEASES, X-LINKED; HEARING LOSS; HUMANS; MALE; MUSCLE PROTEINS; PEDIGREE; SEQUENCE DELETION;

EID: 84871608730     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22205     Document Type: Article

References (19)

1. Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH. 1988. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet 80:337-340.
2. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. 1995. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688.
3. Dobyns WB. 2006. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl 95:11-15.
4. Ervasti JM. 2003. Costameres: the Achilles' heel of Herculean muscle. J Biol Chem 278:13591-13594.
5. Fraser GR. 1965. Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet 29:171-196.
6. Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmuller J, Wagner F, Vinuela A, Aguirre LA, Moreno F, Maier H, et al. 2011. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet 88:621-627.
7. Kemp TJ, Sadusky TJ, Simon M, Brown R, Eastwood M, Sassoon DA, Coulton GR. 2001. Identification of a novel stretch-responsive skeletal muscle gene (SMPX). Genomics 72:260-271.
8. Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, et al. 2010. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet 86:65-71.
9. Maquat LE. 2005. Nonsense-mediated mRNA decay in mammals. J Cell Sci 118:1773-6.
10. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
11. Palmer S, Groves N, Schindeler A, Yeoh T, Biben C, Wang CC, Sparrow DB, Barnett L, Jenkins NA, Copeland NG, Koentgen F, Mohun T, et al. 2001. The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an insulin-like growth factor 1-dependent manner. J Cell Biol 153:985-998.
12. Patzak D, Zhuchenko O, Lee CC, Wehnert M. 1999. Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein. Hum Genet 105:506-512.
13. Petersen MB, Wang Q, Willems PJ. 2008. Sex-linked deafness. Clin Genet 73:14-23.
14. Reardon W. 1990. Sex linked deafness: Wilde revisited. J Med Genet 27:376-379.
15. Reardon W, Middleton-Price HR, Sandkuijl L, Phelps P, Bellman S, Luxon L, Pembrey ME, Malcolm S. 1991. A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. Genomics 11:885-894.
16. Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR, Morton CC. 1994. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 23:42-50.
17. Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, et al. 2011. Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88:628-634.
18. Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, Bitner-Glindzicz M. 1996. Mapping of DFN2 to Xq22. Hum Mol Genet 5:2055-2060.
19. Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP. 2011. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. Hear Res 282:167-177.