KEYWORDS: Deafness, EVC2, MYO7A
, Next Generation Sequencing, TH.
Ushib caused by mutations in the large myo7a
gene, Is among the most severe and frequent forms of ush.
investigated the nonsyndromic sensorineural hearing loss using targeted next-generation sequencing technique in the Uyghur families, and some novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, homozygous p.V1880E mutation in MYO7A
, c.1238delT frame-shifting deletion in PCDH15, and c.9690+1G>A splice site mutation in MYO15A.
Similarly, an EIAV vector, carrying the MYO7A
gene (6.5 kb), was tested for its efficiency in the treatment of RP associated with Usher syndrome 1B .
Nonviral vectors developed through studies on vector capacity have increased the number of target genes, and genes such as CEP290 in LCA, ABCA4 in SMD, and MYO7A
in Type 1 Usher syndrome are currently within capacity Nevertheless, larger genes such as USH2A still exceed the available capacity.
Screening for the SLC26A4 (NM_000441.1), MYO7A
(NM_000260.3), MYO15A (NM_016239.3), OTOF (NM_194248.2), CDH23 (NM_022124.5), TMIE (NM_147196.2), TECTA (NM_005422.2), PCDH15 (NM_033056.3), TMC1 (NM_138691.2), TMPRSS3 (NM_024022.2), LHFPL5 (NM_182548.3) genes was performed using the open array method (TaqManR OpenArrayR) in 12 families in whom m.
Samples With Previously Identified Heterozygous Variants That Were Used for Validation of the Combined Disease Panels Gene Transcript Variant Type CDKL5 NM_001037343.1 c.2384A>C, SNV p.Asn795Thr CDKL5 NM_001037343.1 c.380A>G, SNV p.His127Arg FGFR1 NM_023110.2 c.755C>G, SNV p.Pro252Arg FGFR2 NM_000141.4 c.1018T>C, SNV p.Tyr340His FGFR3 NM_001163213.1 c.749C>G, SNV p.Pro250Arg FLCN NM_144997.5 c.1285delC, Indel p.His429ThrfsX39 FLCN NM_144997.5 c.1285dupC, Indel p.His429ProfsX27 GJB2 NM_004004.5 c.35delG, Indel p.Gly12ValfsX2 MAP2K1 NM_002755.3 c.388T>C, SNV p.Tyr130His MYO7A
NM_000260.3 c.3719G>A, SNV p.
De ellos, han sido identificados nueve genes responsables: MYO7A
para USH1B, USH1C para USH1C, CDH23 para US-H1D, PCDH15 para USH1F, SANS para USH1G, y CIB2 para USH1J (8-13); USH2A para USH2A, VLGRlb para USH2C, WHRNpara USH2D y US-H3A para USH3 (14-18).
It is</span><span>aA </span><span>caused by abnormalities in a gene calledaA </span><span>Myosin VIIA</span><span>aA (MYO7A
)</span><span>.aA </span><span>UshStat</span><span>aA </span><span>is designed toaA </span><span>deliver a corrected version of theaA </span><span>MYO7A</span><span>aA gene into the cells of the retinaaA </span><span>using</span><span>aA the company's LentiVector</span><span>aA </span><span>gene deliveryaA </span><span>technology.aA </span>
To determine the expression pattern of Prox1 during the hair cell differentiation of the inner ear, we colabeled embryonic sections using antibodies against Prox1 and Myo7a
or Prox1 and Sox2.
At present, ten genes have been associated with USH, including MYO7A
, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN-1 [3-15].
Steel, "Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a
mutation," Journal of the Association for Research in Otolaryngology, vol.