Most frequently implicated genes in autosomal recessive non-syndromic hearing loss (ARNSHL) are GJB2 followed by SLC26A4 (OMIM: 605646), MYO15A
(OMIM: 602666), OTOF (OMIM: 603681), and CDH23.15 Impact of GJB2 on HL has been determined previously in European (35delG, 167delT).16
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. Besides, rare mutations have been identified in the hearing loss that is rarely diagnosed in the Uyghur minority .
Eight families (66.7%) showed biallelic mutation in the probands (Table 2), including MYO15A mutation in three families (i.e., J02, J07, and J16), MYO7A mutation in one family (J03), TMC1 mutation in two families (i.e., J09 and J11), and PCDH15 in two families (i.e., J08 and J13).
In the J02 family, homozygous c.6892C>T (p.R2298X) in MYO15A was identified in two subjects (II:2 and III:3).
MYO15A gene was revealed to be the disease-causing gene of ARNSHL .
MYO15A gene consisting of 66 exons encodes a protein myosin XVA with 3530 amino acid.
Other common causative genes for autosomal recessive hearing disorder are MYO15A
(encoding for myosin XV), OTOF (encoding for otoferlin, whose mutations are linked to an auditory neuropathy/dissynchorny), and CDH23 (encoding cadherin-23, whose mutations may also be responsible of Usher syndrome type 1D) [41, 49].
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.
(37), the most common genes observed in the Turkish population in non-syndromic autosomal recessive hearing loss following the GJB2 gene were reported and the OTOF gene was reported to be the fourth relevant gene with mutations with a frequency of 5%, following MYO15A (9.9%), TMlE (6.6%), and TMC1 (6.6%).
Novel mutations of MYO15A
associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
DFNB3, spectrum of MYO15A
recessive mutant alleles and an emerging genotype-phenotype correlation.
Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss") report three MYO15A
variants c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs*22), and c.9690+1G>A.