# Corrigendum to “Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families”

Authors: Xiaohui Bai; Chi Zhang; Fengguo Zhang; Yun Xiao; Yu Jin; Haibo Wang; Lei Xu
Journal: BioMed Research International
 (2020)

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## 2.3. Mutation Confirmation by Sanger Sequencing

We performed Sanger sequencing to verify the mutations in subjects and 200 controls. PCR was employed to amplify the regions corresponding to these mutations (Table3). LOXHD1 mRNAs (RefSeq NM_144612.6 and NM_001308013.1) were used as a reference to align the sequences with the Lasergene-SeqMan software.


## 3.2. Novel Mutations in LOXHD1 Gene Were Demonstrated to Cause ARNSHL

Five novel mutations (family F098∗, F564∗, SD1226∗, and SD1391∗) in LOXHD1 gene were identified pathogenic variants based on predictive analysis using PolyPhen2, SIFT, and Mutation Taster. Sanger sequencing was used in all the subjects to verify variants in LOXHD1. The c.2329C>T (p.Q777X) and c.5888delG (p.G1963Afs∗136) mutations were both found in family F098∗ and family F564∗. The c.611-2A>T mutation was verified in family SD1226∗, while c.277G>A (p.D93N) and c.1255+3A>G were verified in family SD1391∗. Sequencing results are shown in Figures 2 and 3, and the schematic diagrams of protein structure are shown in Figure 4.In general, according to ACMG guidelines [13], the mutations of c.611-2A>T, c.1255+3A>G, c.2329C>T (p.Q777∗), and c.5888delG (p.G1963Afs∗136) were classified as pathogenic; in addition, the mutation of c.277G>A (p.D93N) was classified as likely pathogenic. Moreover, all the mutations were newly identified and never reported previously (Figure 4). Those mutations were absent in all of 200 control subjects with the method of Sanger sequencing.The mutation of c.2329C>T (p.Q777X) is a nonsense mutation, which leads to a stop codon in PLAT 6 domain. The variant c.277G > A (p.D93N) is also a missense mutation found in PLAT 1 domain. But the mutation of c.5888delG (p.G1963Afs∗136) is a frameshift mutation in PLAT 14 domain, resulting in a truncated protein of LOXHD1. In addition, the mutations of c.611-2A>T and c.1255+3A>G can cause defects in alternative gene splicing of PLAT 2 and the region between PLAT 11 and PLAT 12 domain, respectively. Figure 4 shows all the previously reported mutations in LOXHD1 that cause DFNB77-type deafness, as well as novel mutations identified in this study. These results showed that LOXHD1 mutations are found throughout all PLAT domains.



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*Source: 9519415-2020-09-29.xml*