Novel Mutations and Mutation Combinations of<i> TMPRSS3</i> Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

<div>Pedigree of Chinese Family FH1523 with ARNSHI and mutation analysis of<i> TMPRSS3</i>. (a) The proband is indicated by an arrow. Subjects II: 2, IV: 1, III: 2, and III: 4 were tested by NGS. gDNA from II: 1 and II: 4 is not available. (b) DNA sequencing profile showing the c.916G&gt;A, c.36delC, and c.316C&gt;T mutations in<i> TMPRSS3</i>. Three variants cosegregated with the clinical phenotype.</div>

BioMed Research International

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Figure 1

Figure 1: Novel Mutations and Mutation Combinations of<i> TMPRSS3</i> Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment 

Figure 1 | Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment 