Abstract：
BACKGROUND: Usher syndrome 1 (USH1) is the most severe subtype of Usher syndrome characterized by severe sensorineural hearing impairment, retinitis pigmentosa, and vestibular areflexia. USH1 is usually induced by variants in MYO7A, a gene that encodes the myosin-VIIa protein. Myosin-VIIA is effectively involved in intracellular molecular traffic essential for the proper function of the cochlea, the retinal photoreceptors, and the retinal pigmented epithelial cells.
RESULTS: In this study, we report a new homozygous missense variant (NM_000260.4: c.1657 C > T p.(His553Tyr)) in MYO7A of a 28-year-old female with symptoms consistent with USH1. This variant, c.1657 C > T p.(His553Tyr) is positioned in the highly conserved myosin-VIIA motor domain. Previous studies showed that variants in this domain might disrupt the ability of the protein to bind to actin and thus cause the disorder.
CONCLUSIONS: Our findings contribute to our understanding of the phenotypic and mutational spectrum of USH1 associated with autosomal recessive MYO7A variants and emphasize the important role of molecular testing in accurately diagnosing this syndrome. More advanced research is required to understand the functional effect of the identified variant and the genotype-phonotype correlations of MYO7A-related Usher syndrome 1.
RESULTS: In this study, we report a new homozygous missense variant (NM_000260.4: c.1657 C > T p.(His553Tyr)) in MYO7A of a 28-year-old female with symptoms consistent with USH1. This variant, c.1657 C > T p.(His553Tyr) is positioned in the highly conserved myosin-VIIA motor domain. Previous studies showed that variants in this domain might disrupt the ability of the protein to bind to actin and thus cause the disorder.
CONCLUSIONS: Our findings contribute to our understanding of the phenotypic and mutational spectrum of USH1 associated with autosomal recessive MYO7A variants and emphasize the important role of molecular testing in accurately diagnosing this syndrome. More advanced research is required to understand the functional effect of the identified variant and the genotype-phonotype correlations of MYO7A-related Usher syndrome 1.
摘要：
背景：Usher综合征1（USH1）是Usher综合征的最严重亚型，其特征是严重的感觉神经性听力障碍，视网膜色素变性,前庭反射和前庭反射。USH1通常由MYO7A中的变体诱导，编码肌球蛋白VIIa蛋白的基因。肌球蛋白-VIIA有效参与耳蜗正常功能所必需的细胞内分子运输,视网膜光感受器，和视网膜色素上皮细胞。
结果：在这项研究中，我们报告了一名28岁女性MYO7A的新纯合错义变体（NM_000260.4：c.1657C>Tp.（His553Tyr）），其症状与USH1一致。这个变种,c.1657C>Tp。（His553Tyr）位于高度保守的肌球蛋白VIIA运动域中。先前的研究表明，该结构域的变体可能会破坏蛋白质与肌动蛋白结合的能力，从而导致疾病。
结论：我们的发现有助于我们理解与常染色体隐性MYO7A变异相关的USH1的表型和突变谱，并强调了分子检测在准确诊断该综合征中的重要作用。需要更先进的研究来了解已识别变体的功能作用以及与MYO7A相关的Usher综合征1的基因型-音型相关性。
结果：在这项研究中，我们报告了一名28岁女性MYO7A的新纯合错义变体（NM_000260.4：c.1657C>Tp.（His553Tyr）），其症状与USH1一致。这个变种,c.1657C>Tp。（His553Tyr）位于高度保守的肌球蛋白VIIA运动域中。先前的研究表明，该结构域的变体可能会破坏蛋白质与肌动蛋白结合的能力，从而导致疾病。
结论：我们的发现有助于我们理解与常染色体隐性MYO7A变异相关的USH1的表型和突变谱，并强调了分子检测在准确诊断该综合征中的重要作用。需要更先进的研究来了解已识别变体的功能作用以及与MYO7A相关的Usher综合征1的基因型-音型相关性。
