Genetic screening revealed usher syndrome in a paediatric Chinese patient

References

• Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595–603.
   PubMedGoogle Scholar
• Hope CI, Bundey S, Proops D, et al. Usher syndrome in the city of Birmingham-prevalence and clinical classification. Br J Ophthalmol. 1997;81:46–53.
   PubMed Web of Science ®Google Scholar
• Rosenberg T, Haim M, Hauch AM, et al. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet. 1997;51:314–321.
   PubMed Web of Science ®Google Scholar
• Espinós C, Nájera C, Millán JM, et al. Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet. 1998;35:391–398.
   PubMed Web of Science ®Google Scholar
• Jaijo T, Aller E, Oltra S, et al. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat. 2006;27:290–291.
   PubMedGoogle Scholar
• Kimberling WJ, Hildebrand MS, Shearer AE, et al. Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genet Med. 2010;12:512–516.
   PubMed Web of Science ®Google Scholar
• Yan D, Liu XZ. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet. 2010;55:327–335.
   PubMed Web of Science ®Google Scholar
• Fishman GA, Kumar A, Joseph ME, et al. Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983;101:1367–1374.
   PubMedGoogle Scholar
• Lévy G, Levi-Acobas F, Blanchard S, et al. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet. 1997;6:111–116.
   PubMed Web of Science ®Google Scholar
• Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995;374:60–61.
   PubMed Web of Science ®Google Scholar
• Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000;26:56–60.
   PubMed Web of Science ®Google Scholar
• Verpy E, Leibovici M, Zwaenepoel I, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet. 2000;26:51–55.
   PubMed Web of Science ®Google Scholar
• Bolz H, von Brederlow B, Ramírez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27:108–112.
   PubMed Web of Science ®Google Scholar
• Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001;68:26–37.
   PubMed Web of Science ®Google Scholar
• Ahmed ZM, Riazuddin S, Bernstein SL, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25–34.
   PubMed Web of Science ®Google Scholar
• Alagramam KN, Yuan H, Kuehn MH, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001;10:1709–1718.
   PubMed Web of Science ®Google Scholar
• Weil D, El-Amraoui A, Masmoudi S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003;12:463–471.
   PubMed Web of Science ®Google Scholar
• Riazuddin S, Belyantseva IA, Giese AP, et al. Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012;44:1265–1271.
   PubMed Web of Science ®Google Scholar
• Bharadwaj AK, Kasztejna JP, Huq S, et al. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res. 2000;71:173–181.
   PubMed Web of Science ®Google Scholar
• Ouyang XM, Yan D, Du LL, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116:292–299.
   PubMed Web of Science ®Google Scholar
• Roux AF, Faugère V, Le Guédard S, et al. French Usher Syndrome Collaboration, Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006;43:763–768.
   PubMed Web of Science ®Google Scholar
• Jaijo T, Aller E, Beneyto M, et al. MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet. 2007;44:e71.
   PubMed Web of Science ®Google Scholar
• Nakanishi H, Ohtsubo M, Iwasaki S, et al. Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. J Hum Genet. 2010;55:796–800.
   PubMed Web of Science ®Google Scholar
• Bonnet C, Grati M, Marlin S, et al. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis. 2011;6:21.
   PubMed Web of Science ®Google Scholar
• Liu XZ, Walsh J, Mburu P, et al. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet. 1997;16:188–190.
   PubMed Web of Science ®Google Scholar
• Sun Y, Chen J, Sun H, et al. Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. J Hum Genet. 2011;56:64–70.
   PubMed Web of Science ®Google Scholar
• Rong W, Chen X, Zhao K, et al. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS One. 2014;9:e97808.
   PubMed Web of Science ®Google Scholar
• Zhai W, Jin X, Gong Y, et al. Phenotype of Usher syndrome type II associated with compound missense mutations of c.721 C > T and c.1969 C > T in MYO7A in a Chinese Usher syndrome family. Int J Ophthalmol. 2015;8:670–674.
   PubMed Web of Science ®Google Scholar
• Hasson T, Heintzelman MB, Santos-Sacchi J, et al. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci USA. 1995;92:9815–9819.
   PubMed Web of Science ®Google Scholar
• Self T, Mahony M, Fleming J, et al. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development. 1998;125:557–566.
   PubMed Web of Science ®Google Scholar
• Kros CJ, Marcotti W, van Netten SM, et al. Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations. Nat Neurosci. 2002;5:41–47.
   PubMed Web of Science ®Google Scholar
• Adato A, Michel V, Kikkawa Y, et al. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet. 2005;14:347–356.
   PubMed Web of Science ®Google Scholar
• Wolfrum U, Liu X, Schmitt A, et al. Myosin VIIa as a common component of cilia and microvilli. Cell Motil Cytoskeleton. 1998;40:261–271.
   PubMed Web of Science ®Google Scholar
• Udovichenko IP, Gibbs D, Williams DS. Actin-based motor properties of native myosin VIIa. J Cell Sci. 2002;115:445–450.
   PubMed Web of Science ®Google Scholar
• El-Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. 2005;118:4593–4603.
   PubMed Web of Science ®Google Scholar
• Tekin D, Yan D, Bademci G, et al. A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes. Hear Res. 2016;333:179–184.
   PubMed Web of Science ®Google Scholar
• Yan D, Tekin D, Bademci G, et al. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet. 2016;135:953–961.
   PubMed Web of Science ®Google Scholar
• Eisenberger T, Slim R, Mansour A, et al. Targeted next generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis. 2012;7:59.
   PubMed Web of Science ®Google Scholar
• Puffenberger EG, Jinks RN, Sougnez C, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7:e28936.
   PubMed Web of Science ®Google Scholar
• Gonzalez MA, Lebrigio RF, Van Booven D, et al. GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat. 2013;34:842–846.
   PubMed Web of Science ®Google Scholar
• Vohr BR, Carty LM, Moore PE, et al. The Rhode Island hearing assessment program: experience with statewide hearing screening. J Pediatr. 1998;133:353–357.
   PubMed Web of Science ®Google Scholar
• Windmill IM. Universal screening of infants for hearing loss: further justification. J Pediatr. 1998;133:318–319.
   PubMed Web of Science ®Google Scholar
• Elden LM, Potsic WP. Screening and prevention of hearing loss in children. Curr Opin Pediatr. 2002;14:723–730.
   PubMed Web of Science ®Google Scholar
• Nikolopoulos TP. Neonatal hearing screening: what we have achieved and what needs to be improved. Int J Pediatr Otorhinolaryngol. 2015;79:635–637.
   PubMed Web of Science ®Google Scholar
• Zina ZB, Masmoudi S, Ayadi H, et al. From DFNB2 to Usher syndrome: variable expressivity of the same disease. Am J Med Genet. 2001;101:181–183.
   PubMed Web of Science ®Google Scholar
• Astuto LM, Kelley PM, Askew JW, et al. Searching for evidence of DFNB2. Am J Med Genet. 2002;109:291–297.
   PubMed Web of Science ®Google Scholar
• National Institute on Deafness and Other Communication Disorders, Pendred syndrome. [cited 2016 Sep 16]. Available from: https://www.nidcd.nih.gov/health/pendred-syndrome, 2015.
   Google Scholar
• Jung J, Seo YW, Choi JY, et al. Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene. Hear Res. 2016;335:33–39.
   PubMed Web of Science ®Google Scholar
• Zalewski CK, Chien WW, King KA, et al. Vestibular dysfunction in patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg. 2015;153:257–262.
   PubMed Web of Science ®Google Scholar
• Cremers CW, Delleman WJ. Usher's syndrome, temporal bone pathology. Int J Pediatr Otorhinolaryngol. 1988;16:23–30.
   PubMed Web of Science ®Google Scholar
• Jiang L, Liang X, Li Y, et al. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015;10:110.
   PubMed Web of Science ®Google Scholar
• Yan D, Tekin M, Blanton SH, et al. Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers. 2013;17:581–587.
   PubMed Web of Science ®Google Scholar
• Weil D, Levy G, Sahly I, et al. Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc Natl Acad Sci USA. 1996;93:3232–3237.
   PubMed Web of Science ®Google Scholar
• Heissler SM, Manstein DJ. Functional characterization of the human myosin-7a motor domain. Cell Mol Life Sci. 2012;69:299–311.
   PubMed Web of Science ®Google Scholar
• Rees DJ, Ades SE, Singer SJ, et al. Sequence and domain structure of talin. Nature. 1990;347:685–689.
   PubMed Web of Science ®Google Scholar
• Takeuchi K, Kawashima A, Nagafuchi A, et al. Structural diversity of band 4.1 superfamily members. J Cell Sci. 1994;107:1921–1928.
   PubMed Web of Science ®Google Scholar
• Schwander M, Lopes V, Sczaniecka A, et al. A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosometransport in retinal pigment epithelial cells. J Neurosci. 2009;29:15810–15818.
   PubMed Web of Science ®Google Scholar