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

<div>Genomic structure of<i> TMPRSS3</i> based on the open reading frame (NM_024022.2) containing 13 exons (black rectangles). The positions of 32<i> TMPRSS3</i> mutations are shown both at the gene (top) and at the protein level (bottom). The protein diagram depicts the predicted functional domains and sequence motifs. The mutations identified in this study are highlighted in red. TM, transmembrane domain; LDLRA, LDL receptor-like domain; SRCR, scavenger receptor cysteine-rich domain; serine protease, trypsin-like serine protease domain.</div>

BioMed Research International

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Figure 4: Novel Mutations and Mutation Combinations of<i> TMPRSS3</i> Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment 

Figure 4 | Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment 